Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006247
Abstract: A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29)… read more here.
Keywords: recessive rod; degeneration; cone degeneration; cause ... See more keywords
ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12909
Abstract: We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not… read more here.
Keywords: splice; report novel; autosomal recessive; rod cone ... See more keywords