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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
Joint Authors
Belli, Susana
Buzzalino, Noemi
Fernández, Cecilia
Alba, Liliana
Taboas, Melisa
Dain, Liliana
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-07
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases.
This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form.
Most of the disease-causing mutations described are likely to be the consequence of nonhomologous recombination or gene conversion events between the active CYP21A2 gene and its homologous CYP21A1P pseudogene.
Nevertheless, an increasing number of naturally occurring mutations have been found.
The change p.H62L is one of the most frequent rare mutations of the CYP21A2 gene.
It was suggested that the p.H62L represents a mild mutation that may be responsible for a more severe enzymatic impairment when presented with another mild mutation on the same allele.
In this report, a 20-year-old woman carrying an isolated p.H62L mutation in compound heterozygosity with c.283-13A/C>G mutation is described.
Although a mildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistent with a more severe simple virilizing form of 21-hydroxylase deficiency.
The study of genotype-phenotype correlation in additional patients would help in defining the role of p.H62L in disease manifestation.
American Psychological Association (APA)
Taboas, Melisa& Fernández, Cecilia& Belli, Susana& Buzzalino, Noemi& Alba, Liliana& Dain, Liliana. 2013. Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-449238
Modern Language Association (MLA)
Taboas, Melisa…[et al.]. Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-449238
American Medical Association (AMA)
Taboas, Melisa& Fernández, Cecilia& Belli, Susana& Buzzalino, Noemi& Alba, Liliana& Dain, Liliana. Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-449238
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-449238