Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alstrom syndrome.

ABSTRACT:

Background

Syndromic dilated cardiomyopathy (DCM) includes a group of complex disorders with a very heterogeneous genetic etiology, leading to delay in definitive diagnosis. Conversely, an early genetic diagnosis is very important in determining the disease course, the prognosis, and may guide personalized treatments and family counseling.

Methods

We analyzed two brothers with a multisystemic disorder, including dilated cardiomyopathy, diabetes, bilateral neurosensorial hearing loss, and optic atrophy, using different genetic approaches, namely mitochondrial DNA sequencing, comparative genomic hybridization-array (a-CGH) and whole exome sequencing (WES).

Results

Sequencing of the wide mitochondrial genome revealed, in both brothers, the known homoplasmic variant rs285

SUBMITTER: Lombardo B 

PROVIDER: S-EPMC7336746 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature