NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?
UNLABELLED
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).
['Scholz|Caroline|C|', 'Steinemann|Doris|D|', 'Mälzer|Madeleine|M|', 'Roy|Mandy|M|', 'Arslan-Kirchner|Mine|M|', 'Illig|Thomas|T|', 'Schmidtke|Jörg|J|', 'Stuhrmann|Manfred|M|']
D000067877:Autism Spectrum Disorder D001321:Autistic Disorder D002648:Child D002872:Chromosome Deletion D055028:Comparative Genomic Hybridization D019066:Facies D020022:Genetic Predisposition to Disease D006801:Humans D007805:Language Development Disorders D008297:Male D058627:Megalencephaly D039842:Neural Cell Adhesion Molecule L1 D019006:Neural Cell Adhesion Molecules D012307:Risk Factors
Macrocephaly Autism spectrum disorder Neural cell adhesion Molecule 2 protein (NCAM2) Array comparative genomic hybridization (microarray)