Retinal disordersGene: DYNC2H1
ESHG 2020 - Presentation/abstract - C06.5 - DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration - Vig et al. Genome and exome sequencing were performed for 5 unrelated cases of inherited retinal disease with no identified variant. Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779 A>T; V3, g.103112272 C>G; V4, g.103070104 A>C) and one previously reported (V5, g.103339363 T>G) were identified. The variants were either hypomorphic or affect a retina-predominant transcript. First report of DYNC2H1 variants, causing non-syndromic IRD. 3 of the families from the UK shared the same homozygous variant (V3) - possible founder mutation in South Asias in the UK.
Note this gene produces a dynein-2 protein that is found in cilia.
No publication relating to this work has been found in PubMed at this time.
Created: 13 Jun 2020, 7:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: DYNC2H1 was added gene: DYNC2H1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal