NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?
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


BACKGROUND
autism spectrum disorder, macrocephaly, neural cell adhesion molecule 2 protein (NCAM2), array comparative genomic hybridization (microarray).
Institute of Human Genetics, Hannover Medical School, Hannover, Germany. Electronic address: scholz.caroline@mh-hannover.de.
Caroline
C
Scholz
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Doris
D
Steinemann
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Madeleine
M
Mälzer
Psychiatric Clinic, Hannover Medical School, Hannover, Germany.
Mandy
M
Roy
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Mine
M
Arslan-Kirchner
Institute of Human Genetics, Hannover Medical School, Hannover, Germany; Hannover Unified Biobank, Germany.
Thomas
T
Illig
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Jörg
J
Schmidtke
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Manfred
M
Stuhrmann
D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000503:physiopathology; D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002872:Chromosome Deletion; D055028:Comparative Genomic Hybridization; D019066:Facies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics / Q000503:physiopathology; D008297:Male; D058627:Megalencephaly / Q000235:genetics* / Q000503:physiopathology; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules; D012307:Risk Factors
C108033:NCAM2 protein, human; D039842:Neural Cell Adhesion Molecule L1; D019006:Neural Cell Adhesion Molecules
Array comparative genomic hybridization (microarray); Autism spectrum disorder; Macrocephaly; Molecule 2 protein (NCAM2); Neural cell adhesion