A Novel Splice Site and Two Known Mutations of Androgen Receptor Gene in Sex-Reversed XY Phenotype

Vasu, Vidya Rendheer; Balachandran, Saranya; Jayashankar, M. R.; Munirajan, Arasambattu Kannan; Santhiya, S.

doi:10.1089/gtmb.2011.0292

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…As the identified splice site mutation (IVS2-2A>C) in the present study is located at the same position, we speculated that this mutation might create a similar environment and reduces or diminishes 5α-reductase enzyme activity. Apart from this study, some other independent studies also reported splice site mutations that completely abolished the splicing of RNA [Sammarco et al, 2000;Gannage-Yared et al, 2005;Vasu et al, 2012].…”

Section: Discussionsupporting

confidence: 52%

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene

Chauhan¹,

Rani

Singh

et al. 2018

Sex Dev

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Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder with a 46,XY karyotype caused by alterations in the androgen receptor (AR) gene. We have identified 2 mutations in the AR gene that resulted in complete androgen insensitivity syndrome (CAIS) in 2 unrelated cases. This study includes cytogenetics, hormonal, molecular, and bioinformatics analysis including sequencing of the SRY (sex-determining region Y) and AR genes. Mutational analysis in the first case of primary amenorrhea revealed a novel nucleotide substitution (IVS2-2A>G) in the second intron of the AR gene. The mutation is located in the acceptor splice site (2 nucleotides before exon 3) and caused skipping of exon 3 and formation of an abnormal protein. The second mutation (g. 98762_98764delTCT) was identified in a case of oligoamenorrhea and caused the deletion of 1 amino acid (p.∆Phe583). Both identified mutations were located in the conserved P-box region of the DNA-binding domain which is responsible for base-specific contacts with the DNA major groove. Furthermore, a hormonal imbalance was also noticed in both cases with high levels of gonadotropins like FSH and LH in both cases. The present study concluded that both identified AR mutations are predicted to either abolish or decrease the binding ability of the AR to androgen response elements of its downstream genes.

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Section: Discussionsupporting

confidence: 52%

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene

Chauhan¹,

Rani

Singh

et al. 2018

Sex Dev

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“…However, there are no definite genotype correlations observed between the different phenotypes. [11121314151617181920]…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis of androgen receptor gene in two families with androgen insensitivity

Akella

2017

Indian J Endocr Metab

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Background:Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.Subjects and Methods:Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene.Results:Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the AR gene. In silico analysis predicted that both mutations were damaging. We reviewed the various reported Indian mutations in the AR gene.Conclusion:AR gene mutations cause a wide spectrum of disorders from CAIS to male infertility or primary amenorrhea. Early diagnosis is essential for gender assignment and further management, family counseling, and prenatal diagnosis.

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Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis

Wang

et al. 2023

Gene

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A Novel Splice Site and Two Known Mutations of Androgen Receptor Gene in Sex-Reversed XY Phenotype

Cited by 4 publications

References 18 publications

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene

Mutational analysis of androgen receptor gene in two families with androgen insensitivity

Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis

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