Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient

Autores
Taboas, Melisa Ivana; Fernández, Cecilia Soledad; Belli, Susana Haydee; Buzzalino, Noemí Delia; Alba, Liliana; Dain, Liliana Beatriz
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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 themild late onset or nonclassical form.Most of the disease-causingmutations 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 maybe 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 amildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistentwith 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.
Fil: Taboas, Melisa Ivana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Fernández, Cecilia Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Belli, Susana Haydee. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; Argentina
Fil: Buzzalino, Noemí Delia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Alba, Liliana. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Materia
Congenital Adrenal Hyperplasia
21-hydroxylase deficiency
Isolated pH62L mutation
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/213790
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/213790
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patientTaboas, Melisa IvanaFernández, Cecilia SoledadBelli, Susana HaydeeBuzzalino, Noemí DeliaAlba, LilianaDain, Liliana BeatrizCongenital Adrenal Hyperplasia21-hydroxylase deficiencyIsolated pH62L mutationhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Congenital 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 themild late onset or nonclassical form.Most of the disease-causingmutations 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 maybe 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 amildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistentwith 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.Fil: Taboas, Melisa Ivana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Fernández, Cecilia Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Belli, Susana Haydee. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; ArgentinaFil: Buzzalino, Noemí Delia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Alba, Liliana. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaFil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; ArgentinaHindawi Publishing Corporation2013-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/213790Taboas, Melisa Ivana; Fernández, Cecilia Soledad; Belli, Susana Haydee; Buzzalino, Noemí Delia; Alba, Liliana; et al.; Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient; Hindawi Publishing Corporation; Case reports in genetics; 2013; 143781; 6-2013; 1-42090-6544CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.hindawi.com/journals/crig/2013/143781/info:eu-repo/semantics/altIdentifier/doi/10.1155/2013/143781info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:46:25Zoai:ri.conicet.gov.ar:11336/213790instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:46:26.12CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient
title Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient
spellingShingle Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient
Taboas, Melisa Ivana
Congenital Adrenal Hyperplasia
21-hydroxylase deficiency
Isolated pH62L mutation
title_short 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_sort Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient
dc.creator.none.fl_str_mv Taboas, Melisa Ivana
Fernández, Cecilia Soledad
Belli, Susana Haydee
Buzzalino, Noemí Delia
Alba, Liliana
Dain, Liliana Beatriz
author Taboas, Melisa Ivana
author_facet Taboas, Melisa Ivana
Fernández, Cecilia Soledad
Belli, Susana Haydee
Buzzalino, Noemí Delia
Alba, Liliana
Dain, Liliana Beatriz
author_role author
author2 Fernández, Cecilia Soledad
Belli, Susana Haydee
Buzzalino, Noemí Delia
Alba, Liliana
Dain, Liliana Beatriz
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Congenital Adrenal Hyperplasia
21-hydroxylase deficiency
Isolated pH62L mutation
topic Congenital Adrenal Hyperplasia
21-hydroxylase deficiency
Isolated pH62L mutation
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv 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 themild late onset or nonclassical form.Most of the disease-causingmutations 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 maybe 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 amildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistentwith 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.
Fil: Taboas, Melisa Ivana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Fernández, Cecilia Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Belli, Susana Haydee. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; Argentina
Fil: Buzzalino, Noemí Delia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Alba, Liliana. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
Fil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina
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 themild late onset or nonclassical form.Most of the disease-causingmutations 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 maybe 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 amildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistentwith 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.
publishDate 2013
dc.date.none.fl_str_mv 2013-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/213790
Taboas, Melisa Ivana; Fernández, Cecilia Soledad; Belli, Susana Haydee; Buzzalino, Noemí Delia; Alba, Liliana; et al.; Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient; Hindawi Publishing Corporation; Case reports in genetics; 2013; 143781; 6-2013; 1-4
2090-6544
CONICET Digital
CONICET
url http://hdl.handle.net/11336/213790
identifier_str_mv Taboas, Melisa Ivana; Fernández, Cecilia Soledad; Belli, Susana Haydee; Buzzalino, Noemí Delia; Alba, Liliana; et al.; Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient; Hindawi Publishing Corporation; Case reports in genetics; 2013; 143781; 6-2013; 1-4
2090-6544
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.hindawi.com/journals/crig/2013/143781/
info:eu-repo/semantics/altIdentifier/doi/10.1155/2013/143781
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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