Ontology highlight
ABSTRACT:
SUBMITTER: Vulto-van Silfhout AT
PROVIDER: S-EPMC3362183 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Vulto-van Silfhout A T AT de Brouwer A F M AF de Leeuw N N Obihara C C CC Brunner H G HG de Vries B B A BB
Molecular syndromology 20120210 6
De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the LNFG gene that is an important regulator of NOTCH signaling. We suggest that this copy number variation has been a contributive factor to the occurrence of Asperger syndrome in this patient. ...[more]