A Case of 14q11.2 Microdeletion With Autistic Features, Severe Obesity and Facial Dysmorphisms Suggestive of Wolf-Hirschhorn Syndrome

作者：Terrone Gaetano^*; Cappuccio Gerarda; Genesio Rita; Esposito Annalisa; Fiorentino Valeria; Riccitelli Marina; Nitsch Lucio; Brunetti Pierri Nicola; Del Giudice Ennio

来源：American Journal of Medical Genetics, Part A, 2014, 164(1): 190-193.

DOI：10.1002/ajmg.a.36200

• 14q11
• 2 microdeletion syndrome
• CHD8 gene
• MMP14 gene
• Wolf-Hirschhorn syndrome

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 2.89Mb 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.

• 出版日期2014-1