Volume 6, Issue 2 (Int J Mol Cell Med 2017)                   Int J Mol Cell Med 2017, 6(2): 131-134 | Back to browse issues page

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Dehghani M, Dehghan Tezerjani M, Metanat Z, Vahidi Mehrjardi M Y. A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families. Int J Mol Cell Med 2017; 6 (2) :131-134
URL: http://ijmcmed.org/article-1-663-en.html
A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
Mohammadreza Dehghani1 , Masoud Dehghan Tezerjani2 , Zahra Metanat3 , Mohammad Yahya Vahidi Mehrjardi 4
1- Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
2- Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
3- Provincial Clinical Genetic Counseling Center, Zahedan University of Medical Sciences Zahedan, Iran.
4- Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. , mmvahidi@gmail.com
Abstract:   (7750 Views)

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 ALDH1A3 (aldehyde dehydrogenase 1 family member A3), causing a substi tution of glycine (Gly) to arginine (Arg) at residue 237. This study consolidates the importance of ALDH1A3 gene screening in autosomal recessive anophthalmi a. This variation may also be suggestive of a founder effect in the southeastern area of Iran.

Keywords: Anophthalmia, ALDH1A3, consanguinity, autosomal recessive, SNP array
Full-Text [PDF 400 kb]   (2589 Downloads)    
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2017/03/4 | Accepted: 2017/05/18 | Published: 2017/05/31
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