Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often crucial for the definition of appropriate patient management and for the development of a potential personalized therapy.

Methods

We developed a next-generation-sequencing (NGS) protocol for the screening of the 18 most frequently mutated genes to define the genotype and clarify the mutation spectrum of a cohort of 20 BBS Italian patients.

Results

We defined the causative variants in 60% of patients; four of those are novel. 33% of patients also harboured variants in additional gene/s, suggesting possible o

SUBMITTER: Manara E 

PROVIDER: S-EPMC6567512 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature