Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1.

ABSTRACT:

Introduction

Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function.

Methods

We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.3 region, arr[hg19] 2p16.3(50761778_50947729)×1, affecting exons 3-7 of NRXN1, a neurexin-coding gene previously related to schizophrenia, autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID).

Results

The proband exhibits many of the features commonly found in subjects with deletions of NRXN1, like ASD-like traits (including ritualized behaviors, disordered sensory aspect

SUBMITTER: Benitez-Burraco A 

PROVIDER: S-EPMC9843585 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature