The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

ABSTRACT:

Purpose

Seven founder mutations in ABCA4 underlie a large proportion of Stargardt disease in the South African Caucasian population of Afrikaner descent. The Quick 7 assay was locally developed to test for these specific mutations and is available through the National Health Laboratory Service. However, in 2017 it was suggested that one of these mutations, c.2588G>C (p.Gly863Ala), is only pathogenic when present in cis with the c.5603A>T (p.Asn1868Ile) hypomorphic variant. Several patients and family members have been screened and have had their results delivered; thus, a retrospective analysis for the presence of c.5603A>T in all resolved ABCA4 cases was warranted.

Methods

In this study, probands with biallelic mutations in ABCA4 and all families

SUBMITTER: Midgley N 

PROVIDER: S-EPMC7479065 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature