A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation
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DOI：
10.1016/j.ejmg.2009.09.003
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发表时间：
2009-11-01
影响因子：
1.9
通讯作者：
Velinov, Milen
中科院分区：
文献类型：
--
作者：
Reddy, Sujana;Dolzhanskaya, Natalia;Velinov, Milen
一个2.5岁的女孩，表现为中度智力低下、小头畸形、双眉、低耳、长睫毛、持续性胎垫和指倾。利用BAC阵列CGH分析鉴定了染色体区域1q21.3中约1 Mb的缺失。父母随访FISH分析正常。使用Agilent Technologies Inc.，Santa Clara，CA，USA将缺失区域定义为跨越约1.4 Mb，具有近似的基因组位置chrl：152，511，593 - 153，993，103（NCBI基因组构建36）。这是一种新的缺失，迄今未报告。以前报道的较大近端1 q缺失通常包括小头畸形、精神发育迟滞和多种先天性异常。本文报道的缺失区包括至少30个编码基因。其中感兴趣的是肝配蛋白基因家族的三基因簇（EFNA 1、EFNA 3和EFNA 4）。这是一组受体蛋白酪氨酸激酶型基因，推测在神经系统发育中具有功能，但尚未完全表征。(C)2009年Elsevier Masson SAS。All rights reserved.
A 2.5 years old girl presented with moderate mental retardation, microcephaly, arching eyebrows, low set ears, long eyelashes, persistent fetal pads and clinodactyly. About 1 Mb deletion in the chromosomal region 1q21.3 was identified using BAC array CGH analysis. The parental follow up FISH analysis was normal. Further study of the deletion using a 244K oligo-array of Agilent Technologies Inc., Santa Clara, CA, USA defined the deleted region to span about 1.4 Mb with approximate genomic location chr1:152,511,593-153,993,103 (NCBI genome build 36). This is a novel deletion, not reported to-date. Larger proximal 1q deletions that were previously reported typically included microcephaly, mental retardation and multiple congenital anomalies. The deleted region reported here includes at least 30 coding genes. Among them of interest is a three-gene cluster of the ephrin gene family (EFNA1, EFNA3 and EFNA4). This is a group of receptor protein-tyrosine kinase type genes with presumed, but not completely characterized function in nervous system development. (C) 2009 Elsevier Masson SAS. All rights reserved.