期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 59, 期 10, 页码 493-498出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2016.08.006
关键词
Autism spectrum disorder; Macrocephaly; Neural cell adhesion; Molecule 2 protein (NCAM2); Array comparative genomic hybridization (microarray)
We report on an 8-year-old boy with autism spectrum disorder (ASD), speech delay, behavioural problems, disturbed sleep and macrosomia including macrocephaly carrying a microdeletion that contains the entire NCAM2 gene and no other functional genes. Other family members with the microdeletion show a large skull circumference but do not exhibit any symptoms of autism spectrum disorder. Among many ASD-candidate genes, NCAM2 has been assumed to play a pivotal role in the development of ASD because of its function in the outgrowth and bundling of neurites. Our reported case raises the questions whether the NCAM2-deletion is the true cause of the ASD or only a risk factor and whether there might be any connection in NCAM2 with skull-size Key words: autism spectrum disorder, macrocephaly, neural cell adhesion molecule 2 protein (NCAM2), array comparative genomic hybridization (microarray). (C) 2016 Elsevier Masson SAS. All rights reserved.
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