Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alstrom syndrome.

ABSTRACT:

Background

Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.

Case presentation

A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability. Whole genome sequencing was performed to provide the full spectrum of the two siblings' genetic variations. In this study, we present the patients' clinical features and our interpretation of the whole genome sequencin

SUBMITTER: Yang L 

PROVIDER: S-EPMC5518093 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature