Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.

ABSTRACT:

Background

Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also found in the normal population. Conversely, homozygous mutations are rare in patient populations and have not been found in any unaffected individuals.

Case presentation

We describe a consanguineous family carrying a deletion in CNTNAP2 predicted to abolish function of its protein product, CASPR2. Homozygous family members display epilepsy, facial dysmorphisms, severe intellectual disability and impaired language. We compared these patients with previously reported individuals carrying homozygous mutations in CNTNAP2 and identified a highly recognisable phe

SUBMITTER: Rodenas-Cuadrado P 

PROVIDER: S-EPMC4739328 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature