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A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia.
Fertil Steril. 2011 Feb; 95(2):804.e19-21.FS

Abstract

OBJECTIVE

To present clinical, genetic, biochemical, and molecular findings in a family with three sisters with complete androgen insensitivity syndrome (CAIS) and bilateral inguinal hernia.

DESIGN

Case report.

SETTING

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India; Centre for Cellular and Molecular Biology, Hyderabad, India.

PATIENT(S)

A family with four sisters of female phenotype, three of whom have CAIS and bilateral inguinal hernia. Their parents also were screened.

INTERVENTION(S)

Chromosomal analyses by harvesting lymphocytes from peripheral blood sample; hormonal analysis from serum; gene sequencing.

MAIN OUTCOME MEASURE(S)

Karyotype, testosterone, follicle-stimulating hormone, and luteinizing hormone evaluation, sex-determining region Y (SRY) and androgen receptor (AR) gene sequencing.

RESULT(S)

In three sisters of karyotype 46,XY, we found a novel mutation of the single nucleotide transition C to A at position 2205 (GenBank accession number GU784857), resulting in amino acid interchange arginine to serine at codon 615 in exon 3 [R615S] (GenBank Protein_id ADD26779.1). The mother (46,XX) is a heterozygous carrier, and the fourth sister (46,XX) and father (46,XY) are normal.

CONCLUSION(S)

We report a novel missense mutation in exon 3 of the androgen receptor gene. The nature of the mutation presented is in the highly conserved DNA-binding domain of the AR gene, implicating it in the phenotypes observed with severe undervirilization in three sisters.

Authors+Show Affiliations

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20888558

Citation

Sharma, Vikas, et al. "A Novel Arg615Ser Mutation of Androgen Receptor DNA-binding Domain in Three 46,XY Sisters With Complete Androgen Insensitivity Syndrome and Bilateral Inguinal Hernia." Fertility and Sterility, vol. 95, no. 2, 2011, pp. 804.e19-21.
Sharma V, Singh R, Thangaraj K, et al. A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertil Steril. 2011;95(2):804.e19-21.
Sharma, V., Singh, R., Thangaraj, K., & Jyothy, A. (2011). A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertility and Sterility, 95(2), e19-21. https://doi.org/10.1016/j.fertnstert.2010.08.015
Sharma V, et al. A Novel Arg615Ser Mutation of Androgen Receptor DNA-binding Domain in Three 46,XY Sisters With Complete Androgen Insensitivity Syndrome and Bilateral Inguinal Hernia. Fertil Steril. 2011;95(2):804.e19-21. PubMed PMID: 20888558.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. AU - Sharma,Vikas, AU - Singh,Rajender, AU - Thangaraj,Kumarasamy, AU - Jyothy,Akka, PY - 2010/04/13/received PY - 2010/07/08/revised PY - 2010/08/10/accepted PY - 2010/10/5/entrez PY - 2010/10/5/pubmed PY - 2011/3/1/medline SP - 804.e19 EP - 21 JF - Fertility and sterility JO - Fertil Steril VL - 95 IS - 2 N2 - OBJECTIVE: To present clinical, genetic, biochemical, and molecular findings in a family with three sisters with complete androgen insensitivity syndrome (CAIS) and bilateral inguinal hernia. DESIGN: Case report. SETTING: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India; Centre for Cellular and Molecular Biology, Hyderabad, India. PATIENT(S): A family with four sisters of female phenotype, three of whom have CAIS and bilateral inguinal hernia. Their parents also were screened. INTERVENTION(S): Chromosomal analyses by harvesting lymphocytes from peripheral blood sample; hormonal analysis from serum; gene sequencing. MAIN OUTCOME MEASURE(S): Karyotype, testosterone, follicle-stimulating hormone, and luteinizing hormone evaluation, sex-determining region Y (SRY) and androgen receptor (AR) gene sequencing. RESULT(S): In three sisters of karyotype 46,XY, we found a novel mutation of the single nucleotide transition C to A at position 2205 (GenBank accession number GU784857), resulting in amino acid interchange arginine to serine at codon 615 in exon 3 [R615S] (GenBank Protein_id ADD26779.1). The mother (46,XX) is a heterozygous carrier, and the fourth sister (46,XX) and father (46,XY) are normal. CONCLUSION(S): We report a novel missense mutation in exon 3 of the androgen receptor gene. The nature of the mutation presented is in the highly conserved DNA-binding domain of the AR gene, implicating it in the phenotypes observed with severe undervirilization in three sisters. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/20888558/A_novel_Arg615Ser_mutation_of_androgen_receptor_DNA_binding_domain_in_three_46XY_sisters_with_complete_androgen_insensitivity_syndrome_and_bilateral_inguinal_hernia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(10)02403-9 DB - PRIME DP - Unbound Medicine ER -