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Article

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

European journal of medical genetics - 1 Oct 2016

Scholz Caroline, Steinemann Doris, Mälzer Madeleine, Roy Mandy, Arslan-Kirchner Mine, Illig Thomas, Schmidtke Jörg, Stuhrmann Manfred

Abstract excerpt

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...

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Source

Identifiers

PMID: 27596683
DOI: 10.1016/j.ejmg.2016.08.006

Genes

NCAM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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