A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome
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DOI：
10.1016/j.ejmg.2017.08.006
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发表时间：
2017-11-01
影响因子：
1.9
通讯作者：
Darvish, Hossein
中科院分区：
文献类型：
--
作者：
Jamshidi, Javad;Abdollahi, Shokoufeh;Darvish, Hossein
Waardenburg无眼综合征（WAS）是一种罕见的疾病，主要影响眼睛和四肢远端。在本研究中，我们报告了两例伊朗WAS患者，第一例是一名26岁的女孩，患有单侧无眼症，双手双指（趾）弯曲和弯曲，左脚少趾，右脚第二至第五趾并趾。她的双耳也有严重的听力损失。第二个病例是一个12岁的男孩，双侧无眼，右手弯曲，足少指，畸形足和隐睾。两名患者精神正常。为检测致病突变，对患者及正常家族成员进行了SMOC 1基因全部外显子及外显子-内含子边界序列测定。我们在两例患者的SMOC 1基因第3外显子发现了一个纯合错义突变（NM_001034852.2（SMOC 1）：c.367T > C）。由于该突变在家系中与疾病分离，应是致病突变。本研究扩大了WAS相关的SMOC 1基因突变谱。(C)2017 Elsevier Masson SAS。All rights reserved.
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS.The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism. Both patients were mentally normal. To detect the causative mutation all exons and exon-intron boundaries of SMOC1 gene were sequenced in patients and other normal family members. We found a homozygous missense mutation (NM_001034852.2(SMOC1):c.367T > C) in exon 3 of SMOC1 gene in both patients. As the mutation segregated with the disease in the family, it should be the causative mutation. Our study extended the mutation spectrum of SMOC1 gene related to WAS. (C) 2017 Elsevier Masson SAS. All rights reserved.