CDHR1 mutations in retinal dystrophies

Abstract We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six famili...

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Autores principales:	Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/0b654355fc954d1387d8ced6b493ce8b
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spelling	oai:doaj.org-article:0b654355fc954d1387d8ced6b493ce8b2021-12-02T12:30:38ZCDHR1 mutations in retinal dystrophies10.1038/s41598-017-07117-82045-2322https://doaj.org/article/0b654355fc954d1387d8ced6b493ce8b2017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-07117-8https://doaj.org/toc/2045-2322Abstract We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects. Mutation screening was done using a customized next generation sequencing panel targeting 105 genes implicated in inherited retinal disorders. In one family, homozygosity mapping with subsequent candidate gene analysis was performed. Stringent filtering for rare and potentially disease causing variants following a model of autosomal recessive inheritance led to the identification of eleven different CDHR1 variants in nine index cases. All variants were novel at the time of their identification. In silico analyses confirmed their pathogenic potential. Minigene assays were performed for two non-canonical splice site variants and revealed missplicing for the mutant alleles. Mutations in CDHR1 are a rare cause of retinal dystrophy. Our study further expands the mutational spectrum of this gene and the associated clinical presentation.Katarina StinglAnja K. MayerPablo LlavonaLejla MulahasanovicGünther RudolphSamuel G. JacobsonEberhart ZrennerSusanne KohlBernd WissingerNicole WeisschuhNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Katarina Stingl Anja K. Mayer Pablo Llavona Lejla Mulahasanovic Günther Rudolph Samuel G. Jacobson Eberhart Zrenner Susanne Kohl Bernd Wissinger Nicole Weisschuh CDHR1 mutations in retinal dystrophies
description	Abstract We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects. Mutation screening was done using a customized next generation sequencing panel targeting 105 genes implicated in inherited retinal disorders. In one family, homozygosity mapping with subsequent candidate gene analysis was performed. Stringent filtering for rare and potentially disease causing variants following a model of autosomal recessive inheritance led to the identification of eleven different CDHR1 variants in nine index cases. All variants were novel at the time of their identification. In silico analyses confirmed their pathogenic potential. Minigene assays were performed for two non-canonical splice site variants and revealed missplicing for the mutant alleles. Mutations in CDHR1 are a rare cause of retinal dystrophy. Our study further expands the mutational spectrum of this gene and the associated clinical presentation.
format	article
author	Katarina Stingl Anja K. Mayer Pablo Llavona Lejla Mulahasanovic Günther Rudolph Samuel G. Jacobson Eberhart Zrenner Susanne Kohl Bernd Wissinger Nicole Weisschuh
author_facet	Katarina Stingl Anja K. Mayer Pablo Llavona Lejla Mulahasanovic Günther Rudolph Samuel G. Jacobson Eberhart Zrenner Susanne Kohl Bernd Wissinger Nicole Weisschuh
author_sort	Katarina Stingl
title	CDHR1 mutations in retinal dystrophies
title_short	CDHR1 mutations in retinal dystrophies
title_full	CDHR1 mutations in retinal dystrophies
title_fullStr	CDHR1 mutations in retinal dystrophies
title_full_unstemmed	CDHR1 mutations in retinal dystrophies
title_sort	cdhr1 mutations in retinal dystrophies
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/0b654355fc954d1387d8ced6b493ce8b
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CDHR1 mutations in retinal dystrophies

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