A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(1): 190-3, 2014 Jan.
Article
em En
| MEDLINE
| ID: mdl-24243641
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Cromossomos Humanos Par 4
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Deleção Cromossômica
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Síndrome de Wolf-Hirschhorn
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
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Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article