Jamshidi Javad, Abdollahi Shokoufeh, Ghaedi Hamid, Alehabib Elham, Tafakhori Abbas, Alinaghi Somayeh, Chapi Marjan, Johari Amir Hossein, Darvish Hossein
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran; Department of Medical Genetics, Fasa University of Medical Sciences, Fasa, Iran.
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Eur J Med Genet. 2017 Nov;60(11):578-582. doi: 10.1016/j.ejmg.2017.08.006. Epub 2017 Aug 12.
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.
瓦登伯革无眼畸形综合征（WAS）是一种罕见疾病，主要影响眼睛和四肢远端。在本研究中，我们报告了两名患有WAS的伊朗患者。首例患者为一名26岁女孩，单侧无眼畸形，双手双侧屈曲指和斜指，左脚少指畸形，右脚第二至五趾并指畸形。她双耳还伴有严重听力损失。第二例患者是一名12岁男孩，双侧无眼畸形，右手屈曲指畸形，足部少指畸形，马蹄内翻足，隐睾。两名患者智力均正常。为检测致病突变，我们对患者及其正常家庭成员的SMOC1基因所有外显子和外显子-内含子边界进行了测序。我们在两名患者的SMOC1基因第3外显子中均发现了一个纯合错义突变（NM_001034852.2(SMOC1):c.367T>C）。由于该突变在家族中与疾病共分离，因此应为致病突变。我们的研究扩展了与WAS相关的SMOC1基因的突变谱。
