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.

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome / Terrone, Gaetano; Cappuccio, G; Genesio, R; Esposito, A; Fiorentino, V; Riccitelli, M; Nitsch, Lucio; BRUNETTI PIERRI, Nicola; DEL GIUDICE, Ennio. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 164A:1(2014), pp. 190-193. [10.1002/ajmg.a.36200]

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

TERRONE, GAETANO;Cappuccio G;NITSCH, LUCIO;BRUNETTI PIERRI, NICOLA;DEL GIUDICE, ENNIO
2014

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.
2014
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome / Terrone, Gaetano; Cappuccio, G; Genesio, R; Esposito, A; Fiorentino, V; Riccitelli, M; Nitsch, Lucio; BRUNETTI PIERRI, Nicola; DEL GIUDICE, Ennio. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 164A:1(2014), pp. 190-193. [10.1002/ajmg.a.36200]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/571972
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