Terrone Gaetano, Cappuccio Gerarda, Genesio Rita, Esposito Annalisa, Fiorentino Valeria, Riccitelli Marina, Nitsch Lucio, Brunetti-Pierri Nicola, Del Giudice Ennio
Department of Translational Medicine (Section of Pediatrics), Federico II University, Naples, Italy.
Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15.
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.
我们报告了一名21岁女性，她有智力残疾、自闭症特征、严重肥胖以及提示沃尔夫-赫希霍恩综合征（WHS）的面部畸形。阵列比较基因组杂交（Array-CGH）分析显示14号染色体q11.2区域存在一个2.89 Mb的缺失，包含47个已知基因。该缺失中包含的最有趣的基因有CHD8，一种与自闭症谱系障碍相关的染色质结构域解旋酶DNA结合蛋白，以及MMP14，一种与肥胖和2型糖尿病有关的基质金属蛋白酶。本报告表明，14q11.2微缺失可模拟WHS，并提示缺失区间内的基因可能是导致WHS表型模拟的原因。
