A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

A Dheedene; M Maes; S Vergult; B Menten

doi:10.1159/000356060

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

Mol Syndromol. 2014 Jan;5(1):32-5. doi: 10.1159/000356060. Epub 2013 Nov 2.

Authors

A Dheedene¹, M Maes², S Vergult¹, B Menten¹

Affiliations

¹ Center for Medical Genetics, Ghent University, Ghent, Belgium.
² Center for Developmental Disorders, Ghent, Belgium.

Abstract

We describe a boy presenting with intellectual disability and dysmorphic features in whom a cryptic microdeletion in chromosome band 2q12.1 was identified with array CGH. The deletion results in a loss of the POU3F3 and MRPS9 genes. In this paper, we discuss the possible role of POU3F3 haploinsufficiency in relation to the boy's phenotype.

Keywords: 2q12.1; Array CGH; Intellectual disability; MRPS9; POU3F3.

Publication types

Case Reports