Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating th...
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Autor*in:	Jun Liao [verfasserIn] Keith A. Coffman [verfasserIn] Joseph Locker [verfasserIn] Quasar S. Padiath [verfasserIn] Bruce Nmezi [verfasserIn] Robyn A. Filipink [verfasserIn] Jie Hu [verfasserIn] Malini Sathanoori [verfasserIn] Suneeta Madan‐Khetarpal [verfasserIn] Marianne McGuire [verfasserIn] Allison Schreiber [verfasserIn] Rocio Moran [verfasserIn] Neil Friedman [verfasserIn] Lori Hoffner [verfasserIn] Aleksandar Rajkovic [verfasserIn] Svetlana A. Yatsenko [verfasserIn] Urvashi Surti [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements

Übergeordnetes Werk:	In: Molecular Genetics & Genomic Medicine - Wiley, 2014, 9(2021), 4, Seite n/a-n/a
Übergeordnetes Werk:	volume:9 ; year:2021 ; number:4 ; pages:n/a-n/a

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1002/mgg3.1647

Katalog-ID:	DOAJ053692535

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245	1	0	\|a Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
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520			\|a Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC.
650		4	\|a benign hereditary chorea
650		4	\|a chromosome 14q13.2‐q13.3
650		4	\|a copy number variations
650		4	\|a NKX2‐1
650		4	\|a non‐coding regulatory elements
653		0	\|a Genetics
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700	0		\|a Bruce Nmezi \|e verfasserin \|4 aut
700	0		\|a Robyn A. Filipink \|e verfasserin \|4 aut
700	0		\|a Jie Hu \|e verfasserin \|4 aut
700	0		\|a Malini Sathanoori \|e verfasserin \|4 aut
700	0		\|a Suneeta Madan‐Khetarpal \|e verfasserin \|4 aut
700	0		\|a Marianne McGuire \|e verfasserin \|4 aut
700	0		\|a Allison Schreiber \|e verfasserin \|4 aut
700	0		\|a Rocio Moran \|e verfasserin \|4 aut
700	0		\|a Neil Friedman \|e verfasserin \|4 aut
700	0		\|a Lori Hoffner \|e verfasserin \|4 aut
700	0		\|a Aleksandar Rajkovic \|e verfasserin \|4 aut
700	0		\|a Svetlana A. Yatsenko \|e verfasserin \|4 aut
700	0		\|a Urvashi Surti \|e verfasserin \|4 aut
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Indexfelder

author_variant	j l jl k a c kac j l jl q s p qsp b n bn r a f raf j h jh m s ms s m sm m m mm a s as r m rm n f nf l h lh a r ar s a y say u s us
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callnumber-subject-code	QH
publishDate	2021
allfields	10.1002/mgg3.1647 doi (DE-627)DOAJ053692535 (DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c DE-627 ger DE-627 rakwb eng QH426-470 Jun Liao verfasserin aut Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC. benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements Genetics Keith A. Coffman verfasserin aut Joseph Locker verfasserin aut Quasar S. Padiath verfasserin aut Bruce Nmezi verfasserin aut Robyn A. Filipink verfasserin aut Jie Hu verfasserin aut Malini Sathanoori verfasserin aut Suneeta Madan‐Khetarpal verfasserin aut Marianne McGuire verfasserin aut Allison Schreiber verfasserin aut Rocio Moran verfasserin aut Neil Friedman verfasserin aut Lori Hoffner verfasserin aut Aleksandar Rajkovic verfasserin aut Svetlana A. Yatsenko verfasserin aut Urvashi Surti verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 4, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:4 pages:n/a-n/a https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c kostenfrei https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2021 4 n/a-n/a
spelling	10.1002/mgg3.1647 doi (DE-627)DOAJ053692535 (DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c DE-627 ger DE-627 rakwb eng QH426-470 Jun Liao verfasserin aut Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC. benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements Genetics Keith A. Coffman verfasserin aut Joseph Locker verfasserin aut Quasar S. Padiath verfasserin aut Bruce Nmezi verfasserin aut Robyn A. Filipink verfasserin aut Jie Hu verfasserin aut Malini Sathanoori verfasserin aut Suneeta Madan‐Khetarpal verfasserin aut Marianne McGuire verfasserin aut Allison Schreiber verfasserin aut Rocio Moran verfasserin aut Neil Friedman verfasserin aut Lori Hoffner verfasserin aut Aleksandar Rajkovic verfasserin aut Svetlana A. Yatsenko verfasserin aut Urvashi Surti verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 4, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:4 pages:n/a-n/a https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c kostenfrei https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2021 4 n/a-n/a
allfields_unstemmed	10.1002/mgg3.1647 doi (DE-627)DOAJ053692535 (DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c DE-627 ger DE-627 rakwb eng QH426-470 Jun Liao verfasserin aut Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC. benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements Genetics Keith A. Coffman verfasserin aut Joseph Locker verfasserin aut Quasar S. Padiath verfasserin aut Bruce Nmezi verfasserin aut Robyn A. Filipink verfasserin aut Jie Hu verfasserin aut Malini Sathanoori verfasserin aut Suneeta Madan‐Khetarpal verfasserin aut Marianne McGuire verfasserin aut Allison Schreiber verfasserin aut Rocio Moran verfasserin aut Neil Friedman verfasserin aut Lori Hoffner verfasserin aut Aleksandar Rajkovic verfasserin aut Svetlana A. Yatsenko verfasserin aut Urvashi Surti verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 4, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:4 pages:n/a-n/a https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c kostenfrei https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2021 4 n/a-n/a
allfieldsGer	10.1002/mgg3.1647 doi (DE-627)DOAJ053692535 (DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c DE-627 ger DE-627 rakwb eng QH426-470 Jun Liao verfasserin aut Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC. benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements Genetics Keith A. Coffman verfasserin aut Joseph Locker verfasserin aut Quasar S. Padiath verfasserin aut Bruce Nmezi verfasserin aut Robyn A. Filipink verfasserin aut Jie Hu verfasserin aut Malini Sathanoori verfasserin aut Suneeta Madan‐Khetarpal verfasserin aut Marianne McGuire verfasserin aut Allison Schreiber verfasserin aut Rocio Moran verfasserin aut Neil Friedman verfasserin aut Lori Hoffner verfasserin aut Aleksandar Rajkovic verfasserin aut Svetlana A. Yatsenko verfasserin aut Urvashi Surti verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 4, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:4 pages:n/a-n/a https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c kostenfrei https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2021 4 n/a-n/a
allfieldsSound	10.1002/mgg3.1647 doi (DE-627)DOAJ053692535 (DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c DE-627 ger DE-627 rakwb eng QH426-470 Jun Liao verfasserin aut Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC. benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements Genetics Keith A. Coffman verfasserin aut Joseph Locker verfasserin aut Quasar S. Padiath verfasserin aut Bruce Nmezi verfasserin aut Robyn A. Filipink verfasserin aut Jie Hu verfasserin aut Malini Sathanoori verfasserin aut Suneeta Madan‐Khetarpal verfasserin aut Marianne McGuire verfasserin aut Allison Schreiber verfasserin aut Rocio Moran verfasserin aut Neil Friedman verfasserin aut Lori Hoffner verfasserin aut Aleksandar Rajkovic verfasserin aut Svetlana A. Yatsenko verfasserin aut Urvashi Surti verfasserin aut In Molecular Genetics & Genomic Medicine Wiley, 2014 9(2021), 4, Seite n/a-n/a (DE-627)769222234 (DE-600)2734884-2 23249269 nnns volume:9 year:2021 number:4 pages:n/a-n/a https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c kostenfrei https://doi.org/10.1002/mgg3.1647 kostenfrei https://doaj.org/toc/2324-9269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2021 4 n/a-n/a
language	English
source	In Molecular Genetics & Genomic Medicine 9(2021), 4, Seite n/a-n/a volume:9 year:2021 number:4 pages:n/a-n/a
sourceStr	In Molecular Genetics & Genomic Medicine 9(2021), 4, Seite n/a-n/a volume:9 year:2021 number:4 pages:n/a-n/a
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements Genetics
isfreeaccess_bool	true
container_title	Molecular Genetics & Genomic Medicine
authorswithroles_txt_mv	Jun Liao @@aut@@ Keith A. Coffman @@aut@@ Joseph Locker @@aut@@ Quasar S. Padiath @@aut@@ Bruce Nmezi @@aut@@ Robyn A. Filipink @@aut@@ Jie Hu @@aut@@ Malini Sathanoori @@aut@@ Suneeta Madan‐Khetarpal @@aut@@ Marianne McGuire @@aut@@ Allison Schreiber @@aut@@ Rocio Moran @@aut@@ Neil Friedman @@aut@@ Lori Hoffner @@aut@@ Aleksandar Rajkovic @@aut@@ Svetlana A. Yatsenko @@aut@@ Urvashi Surti @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	769222234
id	DOAJ053692535
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ053692535</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240414125756.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230227s2021 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1002/mgg3.1647</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ053692535</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">QH426-470</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Jun Liao</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. 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callnumber-first	Q - Science
author	Jun Liao
spellingShingle	Jun Liao misc QH426-470 misc benign hereditary chorea misc chromosome 14q13.2‐q13.3 misc copy number variations misc NKX2‐1 misc non‐coding regulatory elements misc Genetics Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
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topic_title	QH426-470 Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea benign hereditary chorea chromosome 14q13.2‐q13.3 copy number variations NKX2‐1 non‐coding regulatory elements
topic	misc QH426-470 misc benign hereditary chorea misc chromosome 14q13.2‐q13.3 misc copy number variations misc NKX2‐1 misc non‐coding regulatory elements misc Genetics
topic_unstemmed	misc QH426-470 misc benign hereditary chorea misc chromosome 14q13.2‐q13.3 misc copy number variations misc NKX2‐1 misc non‐coding regulatory elements misc Genetics
topic_browse	misc QH426-470 misc benign hereditary chorea misc chromosome 14q13.2‐q13.3 misc copy number variations misc NKX2‐1 misc non‐coding regulatory elements misc Genetics
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title	Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
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title_full	Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
author_sort	Jun Liao
journal	Molecular Genetics & Genomic Medicine
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author_browse	Jun Liao Keith A. Coffman Joseph Locker Quasar S. Padiath Bruce Nmezi Robyn A. Filipink Jie Hu Malini Sathanoori Suneeta Madan‐Khetarpal Marianne McGuire Allison Schreiber Rocio Moran Neil Friedman Lori Hoffner Aleksandar Rajkovic Svetlana A. Yatsenko Urvashi Surti
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author-letter	Jun Liao
doi_str_mv	10.1002/mgg3.1647
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title_sort	deletion of conserved non‐coding sequences downstream from nkx2‐1: a novel disease‐causing mechanism for benign hereditary chorea
callnumber	QH426-470
title_auth	Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
abstract	Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC.
abstractGer	Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC.
abstract_unstemmed	Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC.
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title_short	Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
url	https://doi.org/10.1002/mgg3.1647 https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c https://doaj.org/toc/2324-9269
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author2	Keith A. Coffman Joseph Locker Quasar S. Padiath Bruce Nmezi Robyn A. Filipink Jie Hu Malini Sathanoori Suneeta Madan‐Khetarpal Marianne McGuire Allison Schreiber Rocio Moran Neil Friedman Lori Hoffner Aleksandar Rajkovic Svetlana A. Yatsenko Urvashi Surti
author2Str	Keith A. Coffman Joseph Locker Quasar S. Padiath Bruce Nmezi Robyn A. Filipink Jie Hu Malini Sathanoori Suneeta Madan‐Khetarpal Marianne McGuire Allison Schreiber Rocio Moran Neil Friedman Lori Hoffner Aleksandar Rajkovic Svetlana A. Yatsenko Urvashi Surti
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doi_str	10.1002/mgg3.1647
callnumber-a	QH426-470
up_date	2024-07-03T19:03:10.703Z
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ053692535</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240414125756.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230227s2021 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1002/mgg3.1647</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ053692535</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ6c3424bc2ff047dfb5cfdc13a434b42c</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">QH426-470</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Jun Liao</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutations of non‐coding regulatory elements of NKX2‐1 may also play a role. Methods and Results By using whole‐genome microarray analysis, we identified a 117 Kb founder deletion in three apparently unrelated BHC families that were negative for NKX2‐1 sequence variants. Targeted next generation sequencing analysis confirmed the deletion and showed that it was part of a complex local genomic rearrangement. In addition, we also detected a 648 Kb de novo deletion in an isolated BHC case. Both deletions are located downstream from NKX2‐1 on chromosome 14q13.2‐q13.3 and share a 33 Kb smallest region of overlap with six previously reported cases. This region has no gene but contains multiple evolutionarily highly conserved non‐coding sequences. Conclusion We propose that the deletion of potential regulatory elements necessary for NKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease‐causing mechanism for BHC.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">benign hereditary chorea</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">chromosome 14q13.2‐q13.3</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">copy number variations</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">NKX2‐1</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">non‐coding regulatory elements</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Genetics</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Keith A. 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Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

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