Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease

Masoumeh Mohebbi; Matin Heidari; Mansour Heidari

doi:10.18502/acta.v61i6.13832

Masoumeh Mohebbi Farabi Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
Matin Heidari Department of Molecular Biology, Islamic Azad University of Qom, Qom, Iran
Mansour Heidari Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/acta.v61i6.13832

Keywords: Stargardt syndrome; ATP binding cassette subfamily a member 4 (ABCA4) gene; Retinitis pigmentosa; Whole exome sequencing

Abstract

Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents were then amplified through polymerase chain reaction (PCR) and the obtained products were screened for mutations in ABCA4 gene by Sanger chain terminating dideoxy nucleotide sequencing. Two novel potentially pathogenic mutations in compound heterozygous state (c.2713del p.E905Rfs*27 and c.5172G>A p.W1724X) were identified in ABCA4 gene which may contribute to the proband’s Stargardt disease phenotype. In general, the WES successfully identified novel causal mutations in ABCA4 gene which may be used for genetic counseling, prenatal diagnosis (PND), and preimplantation genetic diagnosis (PGD) of Stargardt disease.