| Literature DB >> 28805479 |
Laura Bryant1,2, Olga Lozynska1,2, Grace Han1,2, Jessica I W Morgan1,2, Xiaowu Gai3, Albert M Maguire1,2, Tomas Aleman1,2, Jean Bennett1,2.
Abstract
The p.R713Q variant of the semaphorin-4a-encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or heterozygous for the variant. The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.Entities:
Keywords: SEMA4A; genetic diagnosis; macular degeneration; next generation sequencing; retinitis pigmentosa; variant analysis
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Year: 2017 PMID： 28805479 PMCID： PMC6108083 DOI： 10.1080/13816810.2017.1354384
Source DB: PubMed Journal: Ophthalmic Genet ISSN： 1381-6810 Impact factor: 1.803