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Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
Asian J Androl. 2008 Jul; 10(4):687-91.AJ

Abstract

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.

Authors+Show Affiliations

Department of Clinical Sciences and Imaging, G d'Annunzio University Foundation, Chieti-Pescara, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18097502

Citation

Raicu, Florina, et al. "Novel Mutation in the Ligand-binding Domain of the Androgen Receptor Gene (l790p) Associated With Complete Androgen Insensitivity Syndrome." Asian Journal of Andrology, vol. 10, no. 4, 2008, pp. 687-91.
Raicu F, Giuliani R, Gatta V, et al. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. Asian J Androl. 2008;10(4):687-91.
Raicu, F., Giuliani, R., Gatta, V., Palka, C., Franchi, P. G., Lelli-Chiesa, P., Tumini, S., & Stuppia, L. (2008). Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. Asian Journal of Andrology, 10(4), 687-91.
Raicu F, et al. Novel Mutation in the Ligand-binding Domain of the Androgen Receptor Gene (l790p) Associated With Complete Androgen Insensitivity Syndrome. Asian J Androl. 2008;10(4):687-91. PubMed PMID: 18097502.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. AU - Raicu,Florina, AU - Giuliani,Rossella, AU - Gatta,Valentina, AU - Palka,Chiara, AU - Franchi,Paolo Guanciali, AU - Lelli-Chiesa,Pierluigi, AU - Tumini,Stefano, AU - Stuppia,Liborio, Y1 - 2007/12/20/ PY - 2007/12/22/pubmed PY - 2008/7/30/medline PY - 2007/12/22/entrez SP - 687 EP - 91 JF - Asian journal of andrology JO - Asian J Androl VL - 10 IS - 4 N2 - Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators. SN - 1008-682X UR - https://www.unboundmedicine.com/medline/citation/18097502/Novel_mutation_in_the_ligand_binding_domain_of_the_androgen_receptor_gene__l790p__associated_with_complete_androgen_insensitivity_syndrome_ L2 - http://www.asiaandro.com/Abstract.asp?doi=10.1111/j.1745-7262.2008.00376.x DB - PRIME DP - Unbound Medicine ER -