A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
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DOI：
10.1002/ajmg.a.32413
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发表时间：
2008-08-01
影响因子：
2
通讯作者：
Renieri, Alessandra
中科院分区：
文献类型：
--
作者：
Papa, Filomena Tiziana;Mencarelli, Maria Antonietta;Renieri, Alessandra
本报告描述了一名 7 岁女孩，其染色体 14q12 出现 3 Mb 间质缺失，经寡核苷酸阵列-CGH 鉴定。该区域基因贫乏，仅包含五个基因，其中两个 FOXG1B 和 PRKD1 在先前报道的具有非常相似表型的病例中也被删除。两名患者均表现出明显的同位缝、内眦赘皮、球状鼻尖、上唇凹陷、下唇外翻和大耳，临床病程类似雷特综合征，包括正常围产期、产后小头畸形、癫痫发作和严重智力低下。 FOXG1B（叉头盒G1B）是一个非常有趣的候选基因，因为已知它可以促进神经祖细胞增殖并抑制过早的神经发生，并且据报道，在患有出生后小头畸形、胼胝体发育不全、癫痫发作和严重智力低下的患者中，该基因受到破坏。 (c) 2008 年 Wiley-Liss, Inc.
The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. (c) 2008 Wiley-Liss, Inc.