Article
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Molecular genetics & genomic medicine - 1 Jul 2020
Huang Di, Thompson Jennifer A, Charng Jason, Chelva Enid, McLenachan Samuel, Chen Shang-Chih, Zhang Dan, McLaren Terri L, Lamey Tina M, Constable Ian J, De Roach John N, Aung-Htut May Thandar, Adams Abbie, Fletcher Sue, Wilton Steve D, Chen Fred K
Abstract excerpt
BACKGROUND: Deletion-insertion (delins) variants in the retina-specific ATP-binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for <1% in Stargardt disease. The consequences of these delins variants on splicing cannot be predicted with certainty without supporting in vitro data. METHODS: Candidate ABCA4 variants were revealed by genetic and segregation analysis of a family with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.