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

Anneke T. Vultovan Silfhout | Zendy; Arjan P.M. de Brouwer | Zendy; Nicole de Leeuw | Zendy; C.C. Obihara | Zendy; HG Brunner | Zendy; Bert B.A. de Vries | Zendy

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A 380-kb Duplication in 7p22.3 Encompassing the <b><i>LFNG</i></b> Gene in a Boy with Asperger Syndrome

Author(s) -

Anneke T. Vultovan Silfhout,

Arjan P.M. de Brouwer,

Nicole de Leeuw,

C.C. Obihara,

HG Brunner,

Bert B.A. de Vries

Publication year - 2011

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000336191

Subject(s) - gene duplication , gene , asperger syndrome , genetics , autism , biology , psychology , developmental psychology

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.

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