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

Gene
Bahareh RabbaniAli Rabbani

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 3βHSD 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.

References

Feb 1, 1990·Acta paediatrica Scandinavica·A Thilén, A Larsson
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Oct 1, 1996·The Journal of Clinical Endocrinology and Metabolism·Y ZhangW E Rainey
May 5, 2001·Genome Research·P C Ng, S Henikoff
Aug 31, 2002·Nucleic Acids Research·Vasily RamenskyShamil Sunyaev
Dec 19, 2003·Nucleic Acids Research·Jürgen Kopp, Torsten Schwede
Aug 18, 2004·Journal of Molecular Biology·Sarah YohannanJames U Bowie
Jun 28, 2005·Nucleic Acids Research·Emidio CapriottiRita Casadio
May 29, 2007·Nucleic Acids Research·Yana Bromberg, Burkhard Rost
Apr 15, 2008·Trends in Endocrinology and Metabolism : TEM·S Pang
Oct 22, 2008·Nucleic Acids Research·Florian KieferTorsten Schwede
Feb 28, 2009·Nature Protocols·Lawrence A Kelley, Michael J E Sternberg
Jun 2, 2010·Nucleic Acids Research·Mark N WassMichael J E Sternberg
Nov 4, 2010·Nucleic Acids Research·Damian SzklarczykChristian von Mering

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Citations

Nov 20, 2012·Cell Biochemistry and Biophysics·C George Priya Doss, B Rajith
Dec 3, 2014·The Journal of Steroid Biochemistry and Molecular Biology·James L Thomas, Himangshu S Bose
Jun 14, 2017·Journal of Cellular Biochemistry·Himani Tanwar, C George Priya Doss
Nov 5, 2016·The Journal of Clinical Endocrinology and Metabolism·Alexandra E KullePaul-Martin Holterhus

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