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Case Reports
. 2014 Jan;164A(1):190-3.
doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15.

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome

Gaetano Terrone  1 , Gerarda Cappuccio, Rita Genesio, Annalisa Esposito, Valeria Fiorentino, Marina Riccitelli, Lucio Nitsch, Nicola Brunetti-Pierri, Ennio Del Giudice
Affiliations
Case Reports

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome

Gaetano Terrone et al. Am J Med Genet A. 2014 Jan.

Abstract

We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS.

Keywords: 14q11.2 microdeletion syndrome; CHD8 gene; MMP14 gene; Wolf-Hirschhorn syndrome.

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