Molecular approach in the study of Alstrom syndrome: analysis of ten Spanish families.

ABSTRACT:

Purpose

To describe the clinical and genetic findings in 11 Spanish patients with confirmed (n=5) or suspected (n=6) Alström syndrome (AS).

Methods

Patients underwent clinical evaluation, and were screened for variations in Alström syndrome 1 gene (ALMS1) using a genotyping microarray from Asper Ophthalmics and by direct sequencing of coding exons 8, 10, and 16 of ALMS1. Furthermore, we analyzed the presence of the A229T variant of retinitis pigmentosa GTPase regulator-interacting protein 1-like gene (RPGRIP1L) with direct sequencing of coding exon 6.

Results

A great phenotypic variability was observed in our patients. Four mutations in ALMS1-two novel nonsense mutations in one family (p.Y1715X and p.S616X), one previously described mutation in homozygous state in ano

SUBMITTER: Pineiro-Gallego T 

PROVIDER: S-EPMC3413414 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature