Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

DNA Mutational Analysis / methods Genes, Recessive Genetic Association Studies Humans Mutation Pedigree Phenotype Retinitis Pigmentosa / genetics
Exome sequencing Human genetics Inherited retinal diseases Pathogenic variants Solute carrier genes

Journal

Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831

Informations de publication

Date de publication:
07 2022
Historique:
received: 28 09 2021
revised: 20 03 2022
accepted: 28 03 2022
pubmed: 30 4 2022
medline: 14 7 2022
entrez: 29 4 2022
Statut: ppublish

Résumé

This study aimed to investigate the clinical and genetic aspects of solute carrier (SLC) genes in inherited retinal diseases (IRDs). Exome sequencing data were filtered to identify pathogenic variants in SLC genes. Analysis of transcript and protein expression was performed on fibroblast cell lines and retinal sections. Comprehensive analysis of 433 SLC genes in 913 exome sequencing IRD samples revealed homozygous pathogenic variants in 6 SLC genes, including 2 candidate novel genes, which were 2 variants in SLC66A1, causing autosomal recessive retinitis pigmentosa (ARRP), and a variant in SLC39A12, causing autosomal recessive mild widespread retinal degeneration with marked macular involvement. In addition, we present 4 families with ARRP and homozygous null variants in SLC37A3 that were previously suggested to cause retinitis pigmentosa, 2 of which cause exon skipping. The recently reported SLC4A7- c.2007dup variant was found in 2 patients with ARRP resulting in the absence of protein. Finally, variants in SLC24A1 were found in 4 individuals with either ARRP or congenital stationary night blindness. We report on SLC66A1 and SLC39A12 as candidate novel IRD genes, establish SLC37A3 pathogenicity, and provide further evidence of SLC4A7 as IRD genes. We extend the phenotypic spectrum of SLC24A1 and suggest that its ARRP phenotype may be more common than previously reported.

Identifiants

DOI: 10.1016/j.gim.2022.03.020 PMID: 35486108
pubmed: 35486108
pii: S1098-3600(22)00715-8
doi: 10.1016/j.gim.2022.03.020
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1523-1535

Subventions

Organisme : NIEHS NIH HHS
ID : P30 ES030285
Pays : United States

Informations de copyright

Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of Interest The authors declare no conflict of interest.

Auteurs

Talya Millo (T)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Antonio Rivera (A)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Alexey Obolensky (A)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Devora Marks-Ohana (D)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Mingchu Xu (M)

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Yumei Li (Y)

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Enosh Wilhelm (E)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Prakadeeswari Gopalakrishnan (P)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Menachem Gross (M)

Department of Otolaryngology/Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Boris Rosin (B)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Mor Hanany (M)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Andrew Webster (A)

University College London, Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, NHS Foundation Trust, London, United Kingdom.

Anna Maria Tracewska (AM)

Łukasiewicz Research Network - PORT Polish Center for Technology Development, Stabłowicka, Wrocław, Poland.

Robert K Koenekoop (RK)

Department of Paediatric surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

Rui Chen (R)

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Gavin Arno (G)

University College London, Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, NHS Foundation Trust, London, United Kingdom.

Ora Schueler-Furman (O)

Department of Microbiology and Molecular Genetics, Institute of Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.

Susanne Roosing (S)

Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.

Eyal Banin (E)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel. Electronic address: banine@cc.huji.ac.il.

Dror Sharon (D)

Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel. Electronic address: dror.sharon1@mail.huji.ac.il.

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Classifications MeSH

questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › Identification of autosomal recessive novel...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › Identification of autosomal recessive novel...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Identification of autosomal recessive novel...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Identification of autosomal recessive novel...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Identification of autosomal recessive novel...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Identification of autosomal recessive novel...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Identification of autosomal recessive novel...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Rétinite pigmentaire › Identification of autosomal recessive novel...