Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.
pathogenic variants
pseudodominant inheritance
retinal dystrophies
retinitis pigmentosa
whole exome sequencing
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
11
2020
accepted:
11
01
2021
entrez:
26
2
2021
pubmed:
27
2
2021
medline:
27
2
2021
Statut:
epublish
Résumé
Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to establish a precise diagnosis. In this study, families with autosomal dominant RD in successive generations were identified, and we aimed to determine the disease's molecular origin in these consanguineous families. Whole exome sequencing was performed in the index patient of each family. The aim was to determine whether these cases truly represented examples of dominantly inherited RD, or whether another mode of inheritance might be applicable. Six potentially pathogenic variants in four genes were identified in four families. In index patient with enhanced S-cone syndrome in F1, we identified a new digenetic combination: a heterozygous variant p.[G51A];[=] in
Identifiants
pubmed: 33634125
doi: 10.3389/fcell.2021.625560
pmc: PMC7902019
doi:
Types de publication
Journal Article
Langues
eng
Pagination
625560Informations de copyright
Copyright © 2021 Habibi, Falfoul, Tran, El Matri, Chebil, El Matri and Schorderet.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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