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A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()

OBJECTIVE: To report a novel single nucleotide insertion mutation, and present the clinical, genetic, biochemical findings in a patient with primary amenorrhea. METHODS: Chromosomal analysis was performed by harvesting lymphocytes from peripheral blood sample. Hormonal analysis was performed from th...

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Detalles Bibliográficos
Autores principales: Sharma, Vikas, Thangaraj, Kumarasamy, Jyothy, Akka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287795/
https://www.ncbi.nlm.nih.gov/pubmed/25606384
http://dx.doi.org/10.1016/j.mgene.2013.10.011
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author Sharma, Vikas
Thangaraj, Kumarasamy
Jyothy, Akka
author_facet Sharma, Vikas
Thangaraj, Kumarasamy
Jyothy, Akka
author_sort Sharma, Vikas
collection PubMed
description OBJECTIVE: To report a novel single nucleotide insertion mutation, and present the clinical, genetic, biochemical findings in a patient with primary amenorrhea. METHODS: Chromosomal analysis was performed by harvesting lymphocytes from peripheral blood sample. Hormonal analysis was performed from the serum. After genomic DNA extraction from peripheral blood leukocytes the coding regions and corresponding exon–intron boundaries of sex-determining region Y (SRY) gene and androgen receptor (AR) gene were amplified by PCR and subjected to direct sequencing. RESULTS: In the patient with a karyotype 46,XX, we identified a novel single nucleotide insertion mutation of the nucleotide G at position 2369 (GenBank accession number HM010955), resulting in amino acid interchange cysteine to tryptophan at codon 669 in exon 4 [Cys669Trp] (GenBank Protein_id ADF47187). CONCLUSIONS: We report a novel single nucleotide insertion mutation in exon 4 region of the AR gene. The nature of the mutation presented in the patient is in the ligand-binding domain (LBD) of the AR gene. This insertion mutation was predicted to produce frame shift mutation and resulted in truncated form of the AR protein, implicating it in the phenotype observed with primary amenorrhea.
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spelling pubmed-42877952015-01-20 A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea() Sharma, Vikas Thangaraj, Kumarasamy Jyothy, Akka Meta Gene Article OBJECTIVE: To report a novel single nucleotide insertion mutation, and present the clinical, genetic, biochemical findings in a patient with primary amenorrhea. METHODS: Chromosomal analysis was performed by harvesting lymphocytes from peripheral blood sample. Hormonal analysis was performed from the serum. After genomic DNA extraction from peripheral blood leukocytes the coding regions and corresponding exon–intron boundaries of sex-determining region Y (SRY) gene and androgen receptor (AR) gene were amplified by PCR and subjected to direct sequencing. RESULTS: In the patient with a karyotype 46,XX, we identified a novel single nucleotide insertion mutation of the nucleotide G at position 2369 (GenBank accession number HM010955), resulting in amino acid interchange cysteine to tryptophan at codon 669 in exon 4 [Cys669Trp] (GenBank Protein_id ADF47187). CONCLUSIONS: We report a novel single nucleotide insertion mutation in exon 4 region of the AR gene. The nature of the mutation presented in the patient is in the ligand-binding domain (LBD) of the AR gene. This insertion mutation was predicted to produce frame shift mutation and resulted in truncated form of the AR protein, implicating it in the phenotype observed with primary amenorrhea. Elsevier 2013-11-28 /pmc/articles/PMC4287795/ /pubmed/25606384 http://dx.doi.org/10.1016/j.mgene.2013.10.011 Text en © 2013 The Authors http://creativecommons.org/licenses/by/3.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Article
Sharma, Vikas
Thangaraj, Kumarasamy
Jyothy, Akka
A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
title A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
title_full A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
title_fullStr A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
title_full_unstemmed A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
title_short A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
title_sort novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287795/
https://www.ncbi.nlm.nih.gov/pubmed/25606384
http://dx.doi.org/10.1016/j.mgene.2013.10.011
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