A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria

A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria Publisher

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

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1. Department of Pediatric Endocrinology Metabolism, Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran
2. Department of Cell and Molecular Biology Sciences, University of Science and Culture, Tehran, Iran
3. Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
5. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

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

Style	Citing Format
MLA	Noorian S, et al.. "A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria." Meta Gene, vol. 18, no. , 2018, pp. 174-176.
APA	Noorian S, Dehghan Banadaki B, Sotoudeh A, Savad S, Modarressi MH (2018). A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria. Meta Gene, 18(), 174-176.
Chicago	Noorian S, Dehghan Banadaki B, Sotoudeh A, Savad S, Modarressi MH. "A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria." Meta Gene 18, no. (2018): 174-176.
Harvard	Noorian S et al. (2018) 'A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria', Meta Gene, 18(), pp. 174-176.
Vancouver	Noorian S, Dehghan Banadaki B, Sotoudeh A, Savad S, Modarressi MH. A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria. Meta Gene. 2018;18():174-176.
BibTex	@article{ author = {Noorian S and Dehghan Banadaki B and Sotoudeh A and Savad S and Modarressi MH}, title = {A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria}, journal = {Meta Gene}, volume = {18}, number = {}, pages = {174-176}, year = {2018} }
RIS	TY - JOUR AU - Noorian S AU - Dehghan Banadaki B AU - Sotoudeh A AU - Savad S AU - Modarressi MH TI - A Novel Missense Mutation of the Hgd Gene Causes Alkaptonuria JO - Meta Gene VL - 18 IS - SP - 174 EP - 176 PY - 2018 ER -

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