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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 phenotype.    Conclusions  We propose that CASPR2 loss produces a syndrome involving early-onset refractory epilepsy, intellectual disability, language impairment and autistic features that can be recognized as CASPR2 deficiency disorder. Further screening for homozygous patients meeting these criteria, together with detailed phenotypic and molecular investigations will be crucial for understanding the contribution of  CNTNAP2  to normal and disrupted development.

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