The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

ABSTRACT:

Background

The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation has been also often classified as "non-specific Intellectual Disability". The present work aims at a more precise description of the clinical features linked to the c.429_452dup24 mutation.

Methods

We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed.

SUBMITTER: Curie A 

PROVIDER: S-EPMC4016261 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature