Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

ABSTRACT:

Background

Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of ID, considerably complicating molecular diagnostics. Trio-exome sequencing was recently proposed as a diagnostic approach, yet remains costly for a general implementation.

Methods

We report the alternative strategy of targeted high-throughput sequencing of 217 genes in which mutations had been reported in patients with ID or autism as the major clinical concern. We analysed 106 patients with ID of unknown aetiology following array-CGH analysis and other genetic investigations. Ninety per cent of these patients were males, and 75% sporadic cases.

Results

We identified 26 causative mutations: 16 in X-linked genes

SUBMITTER: Redin C 

PROVIDER: S-EPMC4215287 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature