Ullah Asmat, Umair Muhammad, Ahmad Farooq, Muhammad Dost, Basit Sulman, Ahmad Wasim
a Department of Biochemistry, Faculty of Biological Sciences , Quaid-i-Azam University , Islamabad , Pakistan.
b Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University , Larkana , Pakistan.
Ophthalmic Genet. 2017 Jul-Aug;38(4):335-339. doi: 10.1080/13816810.2016.1227456. Epub 2017 Jan 13.
Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic syndrome or anophthalmia-syndactyly, is a rare congenital disorder that segregates in an autosomal recessive pattern. Clinical features of the syndrome include malformation of the eyes and the skeleton. Mostly, WAS is caused by mutations in the SMOC-1 gene.
The present report describes a large consanguineous family of Pakistani origin segregating Waardenburg anophthalmia syndrome in an autosomal recessive pattern. Genotyping followed by Sanger sequencing was performed to search for a candidate gene.
SNP genotyping using AffymetrixGeneChip Human Mapping 250K Nsp array established a single homozygous region among affected members on chromosome 14q23.1-q24.3 harboring the SMOC1 gene. Sequencing of the gene revealed a novel homozygous missense mutation (c.812G>A; p.Cys271Tyr) in the family.
This is the first report of Waardenburg anophthalmia syndrome caused by a SMOC1 variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SMOC-1 in causing WAS.
瓦尔登堡无眼综合征（WAS），也称为眼-肢端发育不全综合征或无眼-并指畸形，是一种罕见的常染色体隐性遗传先天性疾病。该综合征的临床特征包括眼睛和骨骼畸形。大多数情况下，WAS是由SMOC-1基因突变引起的。
本报告描述了一个来自巴基斯坦的近亲大家族，该家族以常染色体隐性模式遗传瓦尔登堡无眼综合征。进行基因分型后采用桑格测序法寻找候选基因。
使用Affymetrix GeneChip Human Mapping 250K Nsp芯片进行单核苷酸多态性（SNP）基因分型，在14号染色体q23.1-q24.3区域受影响成员中确定了一个单一的纯合区域，该区域包含SMOC1基因。对该基因进行测序，在该家族中发现了一个新的纯合错义突变（c.812G>A；p.Cys271Tyr）。
这是巴基斯坦人群中由SMOC1变异导致瓦尔登堡无眼综合征的首例报告。本研究中鉴定出的突变进一步证明了SMOC-1基因与WAS病因有关。
