Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

ABSTRACT:

Background

Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients.

Methods

We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches.

Results

We verified de novo pathogenic single nucleotide variants (SNV) in ARID1B c.1595delG and PHF6 c.820C > T, potentially causative de novo two base indels in SQSTM1 c.115_116delinsTA and UPF1 c.1576_1577delinsA, and de novo SNVs in CACNB3 c.1289G > A, and SPRY4 c.508 T > A, of uncertain sign

SUBMITTER: Zahir FR 

PROVIDER: S-EPMC5442678 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature