Dehghani Mohammadreza, Dehghan Tezerjani Masoud, Metanat Zahra, Vahidi Mehrjardi Mohammad Yahya
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Int J Mol Cell Med. 2017 Spring;6(2):131-134. doi: 10.22088/acadpub.BUMS.6.2.7. Epub 2017 Jun 6.
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members of two families in which three individuals are suffering from severe bilateral anophthalmia. The genetic analysis revealed a novel missense c.709G>A mutation in exon 7 of (aldehyde dehydrogenase 1 family member A3), causing a substitution of glycine (Gly) to arginine (Arg) at residue 237. This study consolidates the importance of gene screening in autosomal recessive anophthalmia. This variation may also be suggestive of a founder effect in the southeastern area of Iran.
无眼症或小眼症（A/M）是一组罕见的先天性/发育性眼部畸形，其特征是眼眶内一只或两只眼睛缺失或过小。它具有复杂的病因，包括染色体、高度异质性的单基因以及环境因素。我们对两个家族的成员进行了全基因组SNP阵列分析，随后进行纯合性定位和测序，这两个家族中有三名个体患有严重的双侧无眼症。遗传分析揭示了（醛脱氢酶1家族成员A3）第7外显子中一个新的错义c.709G>A突变，导致第237位残基处的甘氨酸（Gly）被精氨酸（Arg）取代。这项研究巩固了在常染色体隐性无眼症中进行基因筛查的重要性。这种变异也可能暗示了伊朗东南部地区的奠基者效应。
