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

BMC Medical Genetics

Case Report

Nicola Pietrafusa¹  Angela La Neve¹  Teresa Francavilla¹  Pedro Rodenas-Cuadrado²  Sonja C. Vernes³  Pasquale Striano⁴ 

[1] Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy;Max Planck Institute for Psycholinguistics, PO Box 310, 6500, Nijmegen, AH, The Netherlands;Max Planck Institute for Psycholinguistics, PO Box 310, 6500, Nijmegen, AH, The Netherlands;Donders Centre for Cognitive Neuroimaging, Kapittelweg 29, 6525, Nijmegen, EN, The Netherlands;Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, “G. Gaslini” Institute, Genoa, Italy;

关键词: CNTNAP2;    Epilepsy;    Intellectual disability;    Language regression;    Autism;   

DOI  :  10.1186/s12881-016-0272-8

 received in 2015-07-23, accepted in 2016-01-29,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundHeterozygous 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 presentationWe 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.ConclusionsWe 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.

【 授权许可】

CC BY   
© Rodenas-Cuadrado et al. 2016