The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

ABSTRACT:

Introduction

A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eight multiplex consanguineous sibships from different ethnic backgrounds, and led to the delineation of the phenotype. Affected patients have microcephaly, obesity, normal motor development, severe ID, and language impairment and brain anomalies.

Patients

We report six new patients recruited through a national collaborative network.

Results

In the two patients heterozygous for a copy-number variation (CNV), the phenotype was clinically relevant with regard to the literature, wh

SUBMITTER: Mortreux J 

PROVIDER: S-EPMC5838970 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature