Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

ABSTRACT:

Purpose

Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13.

Methods

To describe a form of non-mendelian inheritance in a patient with STGD identified through the course of a conventional mutational screening performed on 77 STGD families. DNA from the patient and relatives was analyzed for variants in all 50 exons of the ABCA4 gene by screening on the ABCR400 microarray; results were confirmed by direct sequencing. Haplotype analyses, standard and high-resolution (HR) karyotypes, and multiplex ligation-dependent probe amplification (MLPA) were also performed.

Results

A patient with STGD caused by the

SUBMITTER: Riveiro-Alvarez R 

PROVIDER: S-EPMC2553007 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature