A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.
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ABSTRACT:
SUBMITTER: Vulto-van Silfhout AT
PROVIDER: S-EPMC3362183 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
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A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.
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]
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