X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<

We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intro...
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Gespeichert in:

Autor*in:	Friederike Kortüm [verfasserIn] Sinja Kieninger [verfasserIn] Pascale Mazzola [verfasserIn] Susanne Kohl [verfasserIn] Bernd Wissinger [verfasserIn] Holger Prokisch [verfasserIn] Katarina Stingl [verfasserIn] Nicole Weisschuh [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 22(2021), 2, p 850
Übergeordnetes Werk:	volume:22 ; year:2021 ; number:2, p 850

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.3390/ijms22020850

Katalog-ID:	DOAJ023334029

Internformat


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520			\|a We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials.
650		4	\|a retinitis pigmentosa
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author_variant	f k fk s k sk p m pm s k sk b w bw h p hp k s ks n w nw
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allfields	10.3390/ijms22020850 doi (DE-627)DOAJ023334029 (DE-599)DOAJ3d0aa9d7331c40af880f4ce48b2e7139 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Friederike Kortüm verfasserin aut X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i< 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials. retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay Biology (General) Chemistry Sinja Kieninger verfasserin aut Pascale Mazzola verfasserin aut Susanne Kohl verfasserin aut Bernd Wissinger verfasserin aut Holger Prokisch verfasserin aut Katarina Stingl verfasserin aut Nicole Weisschuh verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 22(2021), 2, p 850 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:22 year:2021 number:2, p 850 https://doi.org/10.3390/ijms22020850 kostenfrei https://doaj.org/article/3d0aa9d7331c40af880f4ce48b2e7139 kostenfrei https://www.mdpi.com/1422-0067/22/2/850 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 22 2021 2, p 850
spelling	10.3390/ijms22020850 doi (DE-627)DOAJ023334029 (DE-599)DOAJ3d0aa9d7331c40af880f4ce48b2e7139 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Friederike Kortüm verfasserin aut X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i< 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials. retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay Biology (General) Chemistry Sinja Kieninger verfasserin aut Pascale Mazzola verfasserin aut Susanne Kohl verfasserin aut Bernd Wissinger verfasserin aut Holger Prokisch verfasserin aut Katarina Stingl verfasserin aut Nicole Weisschuh verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 22(2021), 2, p 850 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:22 year:2021 number:2, p 850 https://doi.org/10.3390/ijms22020850 kostenfrei https://doaj.org/article/3d0aa9d7331c40af880f4ce48b2e7139 kostenfrei https://www.mdpi.com/1422-0067/22/2/850 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 22 2021 2, p 850
allfields_unstemmed	10.3390/ijms22020850 doi (DE-627)DOAJ023334029 (DE-599)DOAJ3d0aa9d7331c40af880f4ce48b2e7139 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Friederike Kortüm verfasserin aut X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i< 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials. retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay Biology (General) Chemistry Sinja Kieninger verfasserin aut Pascale Mazzola verfasserin aut Susanne Kohl verfasserin aut Bernd Wissinger verfasserin aut Holger Prokisch verfasserin aut Katarina Stingl verfasserin aut Nicole Weisschuh verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 22(2021), 2, p 850 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:22 year:2021 number:2, p 850 https://doi.org/10.3390/ijms22020850 kostenfrei https://doaj.org/article/3d0aa9d7331c40af880f4ce48b2e7139 kostenfrei https://www.mdpi.com/1422-0067/22/2/850 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 22 2021 2, p 850
allfieldsGer	10.3390/ijms22020850 doi (DE-627)DOAJ023334029 (DE-599)DOAJ3d0aa9d7331c40af880f4ce48b2e7139 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Friederike Kortüm verfasserin aut X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i< 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials. retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay Biology (General) Chemistry Sinja Kieninger verfasserin aut Pascale Mazzola verfasserin aut Susanne Kohl verfasserin aut Bernd Wissinger verfasserin aut Holger Prokisch verfasserin aut Katarina Stingl verfasserin aut Nicole Weisschuh verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 22(2021), 2, p 850 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:22 year:2021 number:2, p 850 https://doi.org/10.3390/ijms22020850 kostenfrei https://doaj.org/article/3d0aa9d7331c40af880f4ce48b2e7139 kostenfrei https://www.mdpi.com/1422-0067/22/2/850 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 22 2021 2, p 850
allfieldsSound	10.3390/ijms22020850 doi (DE-627)DOAJ023334029 (DE-599)DOAJ3d0aa9d7331c40af880f4ce48b2e7139 DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Friederike Kortüm verfasserin aut X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i< 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials. retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay Biology (General) Chemistry Sinja Kieninger verfasserin aut Pascale Mazzola verfasserin aut Susanne Kohl verfasserin aut Bernd Wissinger verfasserin aut Holger Prokisch verfasserin aut Katarina Stingl verfasserin aut Nicole Weisschuh verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 22(2021), 2, p 850 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:22 year:2021 number:2, p 850 https://doi.org/10.3390/ijms22020850 kostenfrei https://doaj.org/article/3d0aa9d7331c40af880f4ce48b2e7139 kostenfrei https://www.mdpi.com/1422-0067/22/2/850 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 22 2021 2, p 850
language	English
source	In International Journal of Molecular Sciences 22(2021), 2, p 850 volume:22 year:2021 number:2, p 850
sourceStr	In International Journal of Molecular Sciences 22(2021), 2, p 850 volume:22 year:2021 number:2, p 850
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topic_facet	retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay Biology (General) Chemistry
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container_title	International Journal of Molecular Sciences
authorswithroles_txt_mv	Friederike Kortüm @@aut@@ Sinja Kieninger @@aut@@ Pascale Mazzola @@aut@@ Susanne Kohl @@aut@@ Bernd Wissinger @@aut@@ Holger Prokisch @@aut@@ Katarina Stingl @@aut@@ Nicole Weisschuh @@aut@@
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callnumber-first	Q - Science
author	Friederike Kortüm
spellingShingle	Friederike Kortüm misc QH301-705.5 misc QD1-999 misc retinitis pigmentosa misc X-linked misc RPGR misc non-canonical splice site variant misc in vitro splice assay misc Biology (General) misc Chemistry X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<
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topic_title	QH301-705.5 QD1-999 X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i< retinitis pigmentosa X-linked RPGR non-canonical splice site variant in vitro splice assay
topic	misc QH301-705.5 misc QD1-999 misc retinitis pigmentosa misc X-linked misc RPGR misc non-canonical splice site variant misc in vitro splice assay misc Biology (General) misc Chemistry
topic_unstemmed	misc QH301-705.5 misc QD1-999 misc retinitis pigmentosa misc X-linked misc RPGR misc non-canonical splice site variant misc in vitro splice assay misc Biology (General) misc Chemistry
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title	X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<
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title_full	X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<
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title_sort	x-linked retinitis pigmentosa caused by non-canonical splice site variants in <i<rpgr</i<
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title_auth	X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<
abstract	We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials.
abstractGer	We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials.
abstract_unstemmed	We aimed to validate the effect of non-canonical splice site variants in the <i<RPGR</i< gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G<A), intron 7 (c.779-5T<G), and intron 13 (c.1573-12A<G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in <i<RPGR</i<, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials.
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title_short	X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<
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up_date	2024-07-03T17:01:48.615Z
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X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i<RPGR</i<

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