Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment
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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.
Rodenas-Cuadrado , P , Pietrafusa , N , Francavilla , T , La Neve , A , Striano , P & Vernes , S C 2016 , ' Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment ' , BMC Medical Genetics , vol. 17 , 8 . https://doi.org/10.1186/s12881-016-0272-8
BMC Medical Genetics
Copyright © 2016 Rodenas-Cuadrado et al. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
DescriptionThis work was supported by a Marie Curie Career Integration Grant awarded to S.C.V. and by the Max Planck Society. We are grateful to the family for their consent in undertaking this study.
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