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A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria Publisher



Noorian S1 ; Dehghan Banadaki B2 ; Sotoudeh A3 ; Savad S4 ; Modarressi MH5
Authors

Source: Meta Gene Published:2018


Abstract

Alkaptonuria (AKU) is a rare autosomal recessive disease that leads to metabolic disorder, characterized by accumulation of homogentisic acid which is related to HGD gene mutations. In this article, we report the case of a 13-year-old male and his sibling with clinical symptoms of AKU who referred to the clinic. The next generation sequencing of the HGD gene was performed and the detected mutation was confirmed by Sanger sequencing. The results indicated that siblings carry a homozygote variant defined as c.189G > T in exon 4 of the HGD gene (NM-000187). Moreover, the mutation confirmation of the parents showed that both carry this variant with heterozygote genotype. Our investigations suggest that this variant can be reported as pathogenic. This finding is valuable as to the best of our knowledge there are no previous reports that identify this variant as pathogenic. © 2018
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