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Mol Syndromol. 2012 Apr;2(6):245-250. Epub 2012 Feb 10.

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.

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1
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Abstract

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.

PMID:
22822384
PMCID:
PMC3362183
DOI:
000336191
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