ABCA4 (ABCR) Gene Mutations in Polish Patients With Stargardt Disease

Abstract

Purpose: : To report the mutations of the ABCA4 (ABCR) gene in Polish patients with Stargardt disease (STGD).

Methods: : Twenty patients (aged 9–30) from six families with clinical diagnosis of STGD were examined. Genomic DNA was isolated from peripheral blood leucocytes. The screening of DNA for mutations in the ABCA4 gene was performed on the ABCR400 microarray and by direct sequencing.

Results: : Mutations of the ABCA4 gene previously described as associated with STGD were detected in 14 patients (70%), including 5 (25%) with both alleles and 9 (45%) with one allele. The most frequent ABCA4 alleles were complex alleles L541P/A1038V (in 50% of all patients). Other alleles included IVS30–2 A>G (15%) and IVS38+1 G>A (5%).

Conclusions: : Clinical features consistent with STGD criteria in patients of Polish origin were associated with ABCA4 gene mutations, previously reported as ethnic group specific in other European populations. The study further contributes to genotype/phenotype correlation analyses and to characterization of geographic distribution of ABCA4 gene mutations.

Keywords: retinal degenerations: hereditary • genetics