Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS....
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Autor*in:	Tan, Hu [verfasserIn] Mei, Libin Huang, Yanru Yang, Pu Li, Haoxian Peng, Ying Chen, Chen Wei, Xianda Pan, Qian Liang, Desheng Wu, Lingqian

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Schlagwörter:	Peutz–Jeghers syndrome (PJS) Serine-threonine kinase 11 ( ) Truncating mutation Severe complication

Anmerkung:	© The Author(s). 2016

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 17(2016), 1 vom: 08. Nov.
Übergeordnetes Werk:	volume:17 ; year:2016 ; number:1 ; day:08 ; month:11

Links:	Volltext

DOI / URN:	10.1186/s12881-016-0339-6

Katalog-ID:	SPR02749618X

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520			\|a Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation.
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Indexfelder

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allfields	10.1186/s12881-016-0339-6 doi (DE-627)SPR02749618X (SPR)s12881-016-0339-6-e DE-627 ger DE-627 rakwb eng Tan, Hu verfasserin aut Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. Peutz–Jeghers syndrome (PJS) (dpeaa)DE-He213 Serine-threonine kinase 11 ( (dpeaa)DE-He213 ) (dpeaa)DE-He213 Truncating mutation (dpeaa)DE-He213 Severe complication (dpeaa)DE-He213 Mei, Libin aut Huang, Yanru aut Yang, Pu aut Li, Haoxian aut Peng, Ying aut Chen, Chen aut Wei, Xianda aut Pan, Qian aut Liang, Desheng aut Wu, Lingqian aut Enthalten in BMC medical genetics London : BioMed Central, 2000 17(2016), 1 vom: 08. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:17 year:2016 number:1 day:08 month:11 https://dx.doi.org/10.1186/s12881-016-0339-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 08 11
spelling	10.1186/s12881-016-0339-6 doi (DE-627)SPR02749618X (SPR)s12881-016-0339-6-e DE-627 ger DE-627 rakwb eng Tan, Hu verfasserin aut Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. Peutz–Jeghers syndrome (PJS) (dpeaa)DE-He213 Serine-threonine kinase 11 ( (dpeaa)DE-He213 ) (dpeaa)DE-He213 Truncating mutation (dpeaa)DE-He213 Severe complication (dpeaa)DE-He213 Mei, Libin aut Huang, Yanru aut Yang, Pu aut Li, Haoxian aut Peng, Ying aut Chen, Chen aut Wei, Xianda aut Pan, Qian aut Liang, Desheng aut Wu, Lingqian aut Enthalten in BMC medical genetics London : BioMed Central, 2000 17(2016), 1 vom: 08. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:17 year:2016 number:1 day:08 month:11 https://dx.doi.org/10.1186/s12881-016-0339-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 08 11
allfields_unstemmed	10.1186/s12881-016-0339-6 doi (DE-627)SPR02749618X (SPR)s12881-016-0339-6-e DE-627 ger DE-627 rakwb eng Tan, Hu verfasserin aut Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. Peutz–Jeghers syndrome (PJS) (dpeaa)DE-He213 Serine-threonine kinase 11 ( (dpeaa)DE-He213 ) (dpeaa)DE-He213 Truncating mutation (dpeaa)DE-He213 Severe complication (dpeaa)DE-He213 Mei, Libin aut Huang, Yanru aut Yang, Pu aut Li, Haoxian aut Peng, Ying aut Chen, Chen aut Wei, Xianda aut Pan, Qian aut Liang, Desheng aut Wu, Lingqian aut Enthalten in BMC medical genetics London : BioMed Central, 2000 17(2016), 1 vom: 08. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:17 year:2016 number:1 day:08 month:11 https://dx.doi.org/10.1186/s12881-016-0339-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 08 11
allfieldsGer	10.1186/s12881-016-0339-6 doi (DE-627)SPR02749618X (SPR)s12881-016-0339-6-e DE-627 ger DE-627 rakwb eng Tan, Hu verfasserin aut Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. Peutz–Jeghers syndrome (PJS) (dpeaa)DE-He213 Serine-threonine kinase 11 ( (dpeaa)DE-He213 ) (dpeaa)DE-He213 Truncating mutation (dpeaa)DE-He213 Severe complication (dpeaa)DE-He213 Mei, Libin aut Huang, Yanru aut Yang, Pu aut Li, Haoxian aut Peng, Ying aut Chen, Chen aut Wei, Xianda aut Pan, Qian aut Liang, Desheng aut Wu, Lingqian aut Enthalten in BMC medical genetics London : BioMed Central, 2000 17(2016), 1 vom: 08. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:17 year:2016 number:1 day:08 month:11 https://dx.doi.org/10.1186/s12881-016-0339-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 08 11
allfieldsSound	10.1186/s12881-016-0339-6 doi (DE-627)SPR02749618X (SPR)s12881-016-0339-6-e DE-627 ger DE-627 rakwb eng Tan, Hu verfasserin aut Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. Peutz–Jeghers syndrome (PJS) (dpeaa)DE-He213 Serine-threonine kinase 11 ( (dpeaa)DE-He213 ) (dpeaa)DE-He213 Truncating mutation (dpeaa)DE-He213 Severe complication (dpeaa)DE-He213 Mei, Libin aut Huang, Yanru aut Yang, Pu aut Li, Haoxian aut Peng, Ying aut Chen, Chen aut Wei, Xianda aut Pan, Qian aut Liang, Desheng aut Wu, Lingqian aut Enthalten in BMC medical genetics London : BioMed Central, 2000 17(2016), 1 vom: 08. Nov. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:17 year:2016 number:1 day:08 month:11 https://dx.doi.org/10.1186/s12881-016-0339-6 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2016 1 08 11
language	English
source	Enthalten in BMC medical genetics 17(2016), 1 vom: 08. Nov. volume:17 year:2016 number:1 day:08 month:11
sourceStr	Enthalten in BMC medical genetics 17(2016), 1 vom: 08. Nov. volume:17 year:2016 number:1 day:08 month:11
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Peutz–Jeghers syndrome (PJS) Serine-threonine kinase 11 ( ) Truncating mutation Severe complication
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	Tan, Hu @@aut@@ Mei, Libin @@aut@@ Huang, Yanru @@aut@@ Yang, Pu @@aut@@ Li, Haoxian @@aut@@ Peng, Ying @@aut@@ Chen, Chen @@aut@@ Wei, Xianda @@aut@@ Pan, Qian @@aut@@ Liang, Desheng @@aut@@ Wu, Lingqian @@aut@@
publishDateDaySort_date	2016-11-08T00:00:00Z
hierarchy_top_id	326643788
id	SPR02749618X
language_de	englisch
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author	Tan, Hu
spellingShingle	Tan, Hu misc Peutz–Jeghers syndrome (PJS) misc Serine-threonine kinase 11 ( misc ) misc Truncating mutation misc Severe complication Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
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topic_title	Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome Peutz–Jeghers syndrome (PJS) (dpeaa)DE-He213 Serine-threonine kinase 11 ( (dpeaa)DE-He213 ) (dpeaa)DE-He213 Truncating mutation (dpeaa)DE-He213 Severe complication (dpeaa)DE-He213
topic	misc Peutz–Jeghers syndrome (PJS) misc Serine-threonine kinase 11 ( misc ) misc Truncating mutation misc Severe complication
topic_unstemmed	misc Peutz–Jeghers syndrome (PJS) misc Serine-threonine kinase 11 ( misc ) misc Truncating mutation misc Severe complication
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title	Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
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title_full	Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
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author_browse	Tan, Hu Mei, Libin Huang, Yanru Yang, Pu Li, Haoxian Peng, Ying Chen, Chen Wei, Xianda Pan, Qian Liang, Desheng Wu, Lingqian
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title_sort	three novel mutations of stk11 gene in chinese patients with peutz–jeghers syndrome
title_auth	Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
abstract	Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. © The Author(s). 2016
abstractGer	Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. © The Author(s). 2016
abstract_unstemmed	Background Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS. Case presentation Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Three novel mutations (c.721G > C, c.645_726del82, and del(exon2–5)) and three recurrent mutations (c.752G > A, c.545 T > C and del(exon1)) in STK11 were detected in six Chinese PJS families. Genotype-phenotype correlations suggested that truncating mutations trend to result in severe complications. Conclusion These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation. © The Author(s). 2016
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title_short	Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
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author2	Mei, Libin Huang, Yanru Yang, Pu Li, Haoxian Peng, Ying Chen, Chen Wei, Xianda Pan, Qian Liang, Desheng Wu, Lingqian
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score	7.400075

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Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

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Zugang & Verfügbarkeit

Vorhandene Bände

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