X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

ABSTRACT:

Background

X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation sequencing technologies have become a powerful approach for identifying molecular gene mutations relevant for diagnosis.

Methods & objectives

Enrichment of X-chromosome specific exons and massively parallel sequencing was performed for identifying the causative mutations in 14 Finnish families, each of them having several males affected with intellectual disability of unknown cause.

Results

We found four novel mutations in known XLID genes. Two mutations; one previously reported missense mutation (c.1111C > T), and one novel frameshift mutation (c. 990

SUBMITTER: Philips AK 

PROVIDER: S-EPMC4022384 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature