A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

Rose Girgis; Faria Ajamian; Peter Metcalfe

doi:10.1515/jpem.2011.038

Published by De Gruyter July 9, 2011

A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

Rose Girgis, Faria Ajamian and Peter Metcalfe

From the journal Journal of Pediatric Endocrinology and Metabolism

https://doi.org/10.1515/jpem.2011.038

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Abstract

The Human Cytochrome P450 (CYP) Allele Nomenclature Committee (http:www.imm.Ki.se/CYPalleles/cyp21.htm) has created a CYP21A2 database which include a list of all reported CYP21A2 mutations and the last update of this database was in 2006. The most up to date list of the CYP21A2 mutations reported over the last four years was published in a recent article by Concolino et al. We report a previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant resulting in salt wasting congenital adrenal hyperplasia.

Keywords: CAH; CYP21A2 gene; novel mutation

Corresponding author: Dr. Rose Girgis, MBBCh, MSc, FRCP (C), Associate Professor, Pediatric Endocrinology, Department of Pediatrics, University of Alberta, 1C4.20 WMC, Stollery Children’s Hospital, 8440-112ST, Edmonton, Alberta, Canada, T6G 2B7 Phone: +1 (708) 407-8249, Fax: +1 (708) 407-1509

Reference

1. Concolino P, Mello E, Zuppi C, Capoluongo E. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations. Clin Chem Lab Med 2010;48:1057–62.10.1515/CCLM.2010.239Search in Google Scholar

Received: 2011-1-20

Accepted: 2011-3-19

Published Online: 2011-07-09

Published in Print: 2013-08-01

A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

Abstract

Reference

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