Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alstrom syndrome: a case report.

ABSTRACT:

Background

Alström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ciliopathies and genetic diseases. Currently, mutations in the ALMS1 gene have been reported as a major cause of AS, thus, it is crucial to focus on the detection and discovery of ALMS1 mutations.

Case presentation

We present a case of a 13-year-old Chinese boy weighing 70 kg and standing 168 cm tall. He has two younger brothers. Their parents hail from different ancestral homes in eastern and northern China. The patient's primary clinical findings included visual impairment at the age of four and progressive hearing loss star

SUBMITTER: Hu M 

PROVIDER: S-EPMC11295688 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature