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Article

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Molecular vision - 31 Dec 2010

Davidson Alice E, Sergouniotis Panagiotis I, Burgess-Mullan Rosemary, Hart-Holden Nichola, Low Sancy, Foster Paul J, Manson Forbes D C, Black Graeme C M, Webster Andrew R

Abstract excerpt

PURPOSE: Autosomal recessive bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans. The aim was to determine whether a synonymous BEST1 variant, c.102C>T, identified in two unrelated ARB patients, alters pre-mRNA splicing of the gene. Additionally a detailed phenotypic...

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Source

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Identifiers

PMID: 21203346
PMCID: PMC3013070

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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