Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations

(2012) In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations. Gene. pp. 215-221. ISSN 0378-1119

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Abstract

Mutations of 3 beta hydroxysteroid dehydrogenase type II (HSD3B2) gene result in different clinical consequences. We explain a patient who demonstrated a salt wasting form of 3 beta HSD deficiency in infancy. Signs of hyponatremia and hyperkalemia were recognized in the infant with ambiguous genitalia and perineal hypospadias. The 46,XY male was genotyped by direct sequencing of HSD3B2 gene. Steroid profiles showed elevated concentration of 17 hydroxyprogesterone, and decrease in concentration of cortisol, and testosterone. Dehydroepiandrotone (DHEA) to androstenedione ratio had 6 fold increases. Direct sequencing of the patient revealed homozygous missense A82P mutation in exon 3. This mutation was confirmed by segregation analysis of the parents. Bioinformatic tools were used for in silico structural and functional analyses. Also, the pathological effect of the mutation was validated by different software. Alanine is a conserved amino acid in the membrane binding domain of the enzyme and proline substitution was predicted to destabilize the protein. This report may highlight the importance of the screening programs of the disorder in Iran. (C) 2012 Elsevier B.V. All rights reserved.

Item Type: Article
Keywords: HSD3B2 gene Endocrine disorder Mutation congenital adrenal-hyperplasia 3-beta-hydroxysteroid dehydrogenase-deficiency swiss-model repository 3-beta-hsd deficiency protein-structure molecular-basis male pseudohermaphroditism delta-5-delta-4 isomerase coenzyme specificity missense mutation Genetics & Heredity
Page Range: pp. 215-221
Journal or Publication Title: Gene
Journal Index: ISI
Volume: 503
Number: 2
Identification Number: https://doi.org/10.1016/j.gene.2012.04.080
ISSN: 0378-1119
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/782

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