Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
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 nonclassic...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/143781 |
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| author | Melisa Taboas Cecilia Fernández Susana Belli Noemi Buzzalino Liliana Alba Liliana Dain |
| author_facet | Melisa Taboas Cecilia Fernández Susana Belli Noemi Buzzalino Liliana Alba Liliana Dain |
| author_sort | Melisa Taboas |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f220b5a296584481b5fab7d2a1074d25 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-f220b5a296584481b5fab7d2a1074d252025-02-03T05:59:56ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/143781143781Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient PatientMelisa Taboas0Cecilia Fernández1Susana Belli2Noemi Buzzalino3Liliana Alba4Liliana Dain5Centro Nacional de Genètica Médica, ANLIS “Dr. Carlos G. Malbrán”, Buenos Aires, ArgentinaCentro Nacional de Genètica Médica, ANLIS “Dr. Carlos G. Malbrán”, Buenos Aires, ArgentinaDivisiòn Endocrinología, Hospital Durand, Buenos Aires, ArgentinaCentro Nacional de Genètica Médica, ANLIS “Dr. Carlos G. Malbrán”, Buenos Aires, ArgentinaCentro Nacional de Genètica Médica, ANLIS “Dr. Carlos G. Malbrán”, Buenos Aires, ArgentinaCentro Nacional de Genètica Médica, ANLIS “Dr. Carlos G. Malbrán”, Buenos Aires, ArgentinaCongenital 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.http://dx.doi.org/10.1155/2013/143781 |
| spellingShingle | Melisa Taboas Cecilia Fernández Susana Belli Noemi Buzzalino Liliana Alba Liliana Dain Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient Case Reports in Genetics |
| title | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient |
| title_full | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient |
| title_fullStr | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient |
| title_full_unstemmed | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient |
| title_short | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient |
| title_sort | isolated p h62l mutation in the cyp21a2 gene in a simple virilizing 21 hydroxylase deficient patient |
| url | http://dx.doi.org/10.1155/2013/143781 |
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