Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
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DOI：
10.1016/j.jpurol.2011.02.034
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发表时间：
2011-10-01
影响因子：
2
通讯作者：
Innis, Jeffrey W.
中科院分区：
文献类型：
--
作者：
Al Badr, Wisam;Al Bader, Suha;Innis, Jeffrey W.
我们描述了一个中东血统的儿童，其堂兄弟姐妹在1岁时患有特发性神经源性膀胱和高度膀胱输尿管反流，其特征性面部鬼脸导致在5岁时诊断为Ochoa（尿面部）综合征。我们使用纯合性作图，外显子组捕获和双端测序来确定先证者的致病突变。我们回顾了有关奥乔亚综合征的泌尿系统表现的文献。在10 q24观察到一个大区域的标记纯合性，与已知的常染色体隐性遗传，家族血缘关系和以前的遗传定位在其他家庭与奥乔亚综合征。在HPSE 2的先证者中鉴定出纯合突变：c.1374_1378delTGTGC，外显子10中5个核苷酸的缺失，预测其导致移码，随后用153个新氨基酸替换132个C-末端氨基酸（p.Ala458Alafsdel132ins153）。这种突变相对于最近发表的其他家族中HPSE 2的突变是新的。早期干预和识别Ochoa综合征，控制危险因素和密切监测将减少并发症和肾功能衰竭。(C)2011年儿科泌尿学杂志公司。由爱思唯尔有限公司出版。保留所有权利。
We describe a child of Middle Eastern descent by first-cousin coupling with idiopathic neurogenic bladder and high-grade vesicoureteral reflux at 1 year of age, whose characteristic facial grimace led to the diagnosis of Ochoa (urofacial) syndrome at age 5 years. We used homozygosity mapping, exome capture and paired-end sequencing to identify the disease causing mutation in the proband. We reviewed the literature with respect to the urologic manifestations of Ochoa syndrome. A large region of marker homozygosity was observed at 10q24, consistent with known autosomal recessive inheritance, family consanguinity and previous genetic mapping in other families with Ochoa syndrome. A homozygous mutation was identified in the proband in HPSE2: c.1374_1378delTGTGC, a deletion of 5 nucleotides in exon 10 that is predicted to lead to a frameshift followed by replacement of 132 C-terminal amino acids with 153 novel amino acids (p.Ala458Alafsdel132ins153). This mutation is novel relative to very recently published mutations in HPSE2 in other families. Early intervention and recognition of Ochoa syndrome with control of risk factors and close surveillance will decrease complications and renal failure. (C) 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.