Genetic spectrum of retinal dystrophies in Tunisia

Abstract We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of...

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Autores principales:	Imen Habibi, Yosra Falfoul, Ahmed Turki, Asma Hassairi, Khaled El Matri, Ahmed Chebil, Daniel F. Schorderet, Leila El Matri
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/265ffa3b52364d2eb4761790714b5dc7
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spelling	oai:doaj.org-article:265ffa3b52364d2eb4761790714b5dc72021-12-02T16:24:49ZGenetic spectrum of retinal dystrophies in Tunisia10.1038/s41598-020-67792-y2045-2322https://doaj.org/article/265ffa3b52364d2eb4761790714b5dc72020-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-67792-yhttps://doaj.org/toc/2045-2322Abstract We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of autosomal recessive IRD (AR-IRD) excluding Usher syndrome was analyzed by whole exome sequencing and autozygosity mapping. Causative pathogenic variants were identified in 50 families (68.4%), 42% of which were novel. The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65, CRB1 and CERKL (8% each). 26 variants (8 novel and 18 known) in 19 genes were identified in 26 families (14 missense substitutions, 5 deletions, 4 nonsense pathogenic variants and 3 splice site variants), with further allelic heterogeneity arising from different pathogenic variants in the same gene. The most common phenotype in our cohort is retinitis pigmentosa (23%) and cone rod dystrophy (23%) followed by Leber congenital amaurosis (19.2%). We report the association of new disease phenotypes. This research was carried out in Tunisian patients with IRD in order to delineate the genetic population architecture.Imen HabibiYosra FalfoulAhmed TurkiAsma HassairiKhaled El MatriAhmed ChebilDaniel F. SchorderetLeila El MatriNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Imen Habibi Yosra Falfoul Ahmed Turki Asma Hassairi Khaled El Matri Ahmed Chebil Daniel F. Schorderet Leila El Matri Genetic spectrum of retinal dystrophies in Tunisia
description	Abstract We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of autosomal recessive IRD (AR-IRD) excluding Usher syndrome was analyzed by whole exome sequencing and autozygosity mapping. Causative pathogenic variants were identified in 50 families (68.4%), 42% of which were novel. The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65, CRB1 and CERKL (8% each). 26 variants (8 novel and 18 known) in 19 genes were identified in 26 families (14 missense substitutions, 5 deletions, 4 nonsense pathogenic variants and 3 splice site variants), with further allelic heterogeneity arising from different pathogenic variants in the same gene. The most common phenotype in our cohort is retinitis pigmentosa (23%) and cone rod dystrophy (23%) followed by Leber congenital amaurosis (19.2%). We report the association of new disease phenotypes. This research was carried out in Tunisian patients with IRD in order to delineate the genetic population architecture.
format	article
author	Imen Habibi Yosra Falfoul Ahmed Turki Asma Hassairi Khaled El Matri Ahmed Chebil Daniel F. Schorderet Leila El Matri
author_facet	Imen Habibi Yosra Falfoul Ahmed Turki Asma Hassairi Khaled El Matri Ahmed Chebil Daniel F. Schorderet Leila El Matri
author_sort	Imen Habibi
title	Genetic spectrum of retinal dystrophies in Tunisia
title_short	Genetic spectrum of retinal dystrophies in Tunisia
title_full	Genetic spectrum of retinal dystrophies in Tunisia
title_fullStr	Genetic spectrum of retinal dystrophies in Tunisia
title_full_unstemmed	Genetic spectrum of retinal dystrophies in Tunisia
title_sort	genetic spectrum of retinal dystrophies in tunisia
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/265ffa3b52364d2eb4761790714b5dc7
work_keys_str_mv	AT imenhabibi geneticspectrumofretinaldystrophiesintunisia AT yosrafalfoul geneticspectrumofretinaldystrophiesintunisia AT ahmedturki geneticspectrumofretinaldystrophiesintunisia AT asmahassairi geneticspectrumofretinaldystrophiesintunisia AT khaledelmatri geneticspectrumofretinaldystrophiesintunisia AT ahmedchebil geneticspectrumofretinaldystrophiesintunisia AT danielfschorderet geneticspectrumofretinaldystrophiesintunisia AT leilaelmatri geneticspectrumofretinaldystrophiesintunisia
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Genetic spectrum of retinal dystrophies in Tunisia

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