2 results on '"Sánchez Del Pozo J"'
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2. Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development
- Author
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Mónica Fernández-Cancio, J. Martínez-Mora, E. Vicens-Calvet, M. Carrera, M. Andrade, M. Gussinyé, Antonio Perez-Aytes, Emilio Suárez García, C. Piró, Teresa Vendrell, G. Lledó, M. Del Campo, Laura Audí, Pablo Lapunzina, L. Castaño, Diego Yeste, J. Sánchez del Pozo, José Luis Arroyo, Andrés Blanco Blanco, Maria Clemente, José I Labarta, A. Carrascosa, I. Hernández de la Calle, J. A. Bermúdez de la Vega, J. Forn, Joaquim Calaf, Pilar Andaluz, J. del Valle, E. Mayayo, Nuria Toran, E. Vilaró, Isabel Salinas, M. Beneyto, O. Angerri, Ángel Segura, María Caimari, Ricardo Gracia-Bouthelier, María Angeles Albisu, M. J. Martínez-Sopena, Elisabeth Gabau, V. Borrás, M. J. Martínez-Aedo, María Luisa Granada, Antonio M. Rodríguez, Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA), [Audi,L, Fernández-Cancio,M, Carrascosa,A, Andaluz,P, Vilaró,E, Vicens-Calvet,E, Gussinyé,M, Albusi,MA, Yeste,D, Clemente,M] Pediatric Endocrinology Research Unit, Research Institute, Hospital Vall d’Hebron, Autonomous University, CIBERER (Centre for Biomedical Research Network on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain. [Torán,N, Pirón,C, Hernandez de la Calle,I, Campo,M del, Vendrell,T] Departments of Pathology, Pediatric Surgery, Gynecology, and Genetics, Hospital Vall d’Hebron, Barcelona, Spain. [Blanco,A, Martínez-Mora,J, Granada,ML, Salinas,I] Departments of Pediatric Surgery, Biochemistry, and Endocrinology, Hospital Germans Trias-Pujol, Badalona, Spain. [Forn,J, Calaf,J] Departments of Pediatrics and Gynecology, Hospital Santa Creu i Sant Pau, Barcelona, Spain. [Angerri,O] Department of Urology, Fundació Puigvert, Barcelona, Spain. [Martínez-Sopena,MJ] Department of Pediatrics, Hospital Clínico, Valladolid, Spain. [Valle,J del, García,E] Department of Pediatric Endocrinology, Hospital Virgen del Rocío, Sevilla, Spain. [Gracia-Bouthelier,R, Lapunzina,P] Departments of Pediatric Endocrinology and Genetics, Hospital La Paz, Madrid, Spain. [Mayayo,E, Labarta,JI] Department of Pediatric Endocrinology, Hospital Infantil Miguel Servet, Zaragoza, Spain. [Lledó,G, Sánchez del Pozo,J] Department of Pediatric Endocrinology, Hospital 12 de Octubre, Madrid, Spain. [Arroyo,J] Department of Pediatrics, Complejo Hospitalario de Cáceres, Cáceres, Spain. [Pérez-Aytes,A] Department of Pediatrics, Hospital Infantil La Fe, Valencia, Spain. [Beneyto,M] Department of Genetics, Hospital La Fe, Valencia, Spain. [Segura,A] Department of Urology, Hospital General Universitario de Alicante, Alicante, Spain. [Borrás,V] Department of Pediatrics, Hospital de Granollers, Granollers, Spain. [Gabau,E] Department of Genetics, Corporació Hospitalaria Parc Taulí, Sabadell, Spain. [Caimarí,M] Department of Pediatrics, Hospital Son Dureta, Palma de Mallorca, Spain. [Rodríguez,A] Department of Pediatrics, Hospital Txagorritxu, Vitoria, Spain. [Martínez-Aedo,MJ] Department of Pediatric Endocrinology, Hospital Carlos Haya, Málaga, Spain.[Carrera,M] Centro de Patología Celular CPC, Barcelona, Spain. [Castaño,L] Research Institute, CIBERER, Instituto de Salud Carlos III, Hospital de Cruces, Bilbao, Spain. [Andrade,M] Department of Biochemistry, Hospital Xeral CIES, Vigo, Spain. [Bermúdez de la Vega,JA] Department of Pediatric Endocrinology, Hospital Virgen de la Macarena,Sevilla, Spain., and This work was supported by grants from Instituto de Salud Carlos III, Madrid, Spain [PI06/0903 and CIBERER (Center for Biomedical Research on Rare Diseases)] and from AGAUR (University and Research Management and Evaluation Agency), Barcelona, Spain (SGR02 00042 and SGR05 00908).
- Subjects
Male ,Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings] ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Gonadal dysgenesis ,Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-CH Group Donors::3-Oxo-5-alpha-Steroid 4-Dehydrogenase [Medical Subject Headings] ,Gene mutation ,medicine.disease_cause ,Disgenesia gonadal 46XY ,Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons [Medical Subject Headings] ,Biochemistry ,Reacción en cadena de la polimerasa por transcriptasa inversa ,Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors::Receptors, Cytoplasmic and Nuclear::Receptors, Steroid::Receptors, Androgen [Medical Subject Headings] ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,Heterocigoto ,Exon ,Endocrinology ,Complete androgen insensitivity syndrome ,Testis ,Disorders of sex development ,Child ,3-oxo-5-alfa-esteroide 4-deshidrogenasa ,Genetics ,Gonadal Dysgenesis, 46,XY ,Mutation ,Named Groups::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings] ,Anatomy::Cells::Connective Tissue Cells::Fibroblasts [Medical Subject Headings] ,Reverse Transcriptase Polymerase Chain Reaction ,Exons ,Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction::Reverse Transcriptase Polymerase Chain Reaction [Medical Subject Headings] ,Undervirilization ,Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Sexual Behavior [Medical Subject Headings] ,Phenotype ,Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote [Medical Subject Headings] ,Receptors, Androgen ,Receptores de andrógenos ,Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings] ,Child, Preschool ,Female ,Named Groups::Persons::Age Groups::Infant [Medical Subject Headings] ,Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities::Disorders of Sex Development::46, XY Disorders of Sex Development::Gonadal Dysgenesis, 46,XY [Medical Subject Headings] ,medicine.medical_specialty ,Heterozygote ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings] ,Adolescent ,Sexual Behavior ,Check Tags::Male [Medical Subject Headings] ,Exonas ,Biology ,3-Oxo-5-alpha-Steroid 4-Dehydrogenase ,Internal medicine ,medicine ,Intrones ,Humans ,Named Groups::Persons::Age Groups::Child [Medical Subject Headings] ,Mutación ,Biochemistry (medical) ,Anatomy::Urogenital System::Genitalia::Gonads::Testis [Medical Subject Headings] ,Infant ,Fibroblasts ,medicine.disease ,Introns ,Androgen receptor ,Check Tags::Female [Medical Subject Headings] ,Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Introns [Medical Subject Headings] - Abstract
Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46, XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). Objective: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46, XY DSD in a series of Spanish patients. Setting: We studied a series of 133 index patients with 46, XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. Methods: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. Results: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. Conclusions: AR gene mutation is the most frequent cause of 46, XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel. (J Clin Endocrinol Metab 95: 1876-1888, 2010)
- Published
- 2010
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