Molecular and phenotypic analysis of a family with autosomalrecessive cone-rod dystrophy and Stargardt disease

[摘要] Purpose: To identify the causative gene mutations in three siblingswith severe progressive autosomal recessive cone-rod dystrophy (arCRD)and their fifth paternal cousin with Stargardt disease (STGD1) and tospecify the phenotypes.Methods: We evaluated eight sibs of one family, three family membersdisplayed arCRD, and one STGD1. All of them were screened for mutationsusing a new microarray for autosomal recessive retinitis pigmentosa.Results: We found a new pathologic ATP-binding cassette transporter(ABCA4) splice-site mutation, c.3523-2A>T and the previouslyreported c.5327C>T (p.P1776L) missense mutation in the arCRDpatients. The three siblings shared these two ABCA4 mutations andshowed similar phenotypes. An unusual aspect was nystagmus whichpresented in one of the arCRD patients. In the STGD1 patient we foundthe c.5327C>T (p.P1776L) missense mutation and a novel c.868C>T(p.R290W) missense mutation.Conclusions: Two new ABCA4 mutations were identified in a familywith arCRD and STGD1. A new finding was nystagmus associated with arCRDin one of the patients.

[学科分类] 生物化学/生物物理