Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

ABSTRACT:

Introduction

Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the exome of the proband should be sequenced or if the sequencing of parental genomes is also required, and the resulting increase in diagnostic yield justifies the increase in costs.

Patients and methods

We sequenced the exomes of eight individuals with sporadic syndromic ID and their parents.

Results and discussion

Likely pathogenic variants were detected in eight candidate genes, namely homozygous or compound heterozygous variants in three autosomal genes (ADAMTSL2, NALCN, VPS13B), one in an X-linked gene (MID1), and de novo heterozygous variants in four autosomal genes (

SUBMITTER: Carneiro TN 

PROVIDER: S-EPMC6110279 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature