Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alstrom syndrome.

ABSTRACT:

Purpose

No mutations associated with Alström syndrome (AS), a rare autosomal recessive disease, have been reported in the Japanese population. The purpose of this study was to investigate the genetic and clinical features of two brothers with AS in a consanguineous Japanese family.

Methods

Whole-exome sequencing analysis was performed on two brothers with AS and their unaffected parents. We performed a complete ophthalmic examination, including decimal best-corrected visual acuity, slit-lamp and funduscopic examination, visual-field and color-vision testing, full-field electroretinography, and optical coherence tomography. Fasting blood tests and systemic examinations were also performed.

Results

A novel mutation (c.6151C>T in exon 8) in the Alström syndrome 1 (ALMS1)

SUBMITTER: Katagiri S 

PROVIDER: S-EPMC3850975 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature