Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

ABSTRACT:

Background

De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios.

Methods

The Deciphering Developmental Disorders study is using whole exome sequencing in family trios to investigate children with severe, sporadic, undiagnosed developmental delay. Three of our patients were ascertained from the first 1133 children to have been investigated through this large-scale study. Case 4 was a phenotypically isolated case recruited into an undiagnosed rare disorders sequencing study.

Results

Protein-altering de novo mutations in PURA were identified in four subjects. They include two different frameshifts, one inframe

SUBMITTER: Hunt D 

PROVIDER: S-EPMC4251168 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature