A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia

Sharma, Vikas; Rajender, Singh; Thangaraj, Kumarasamy; Jyothy, A.

doi:10.1016/j.fertnstert.2010.08.015

Cited by 15 publications

(6 citation statements)

References 12 publications

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“…We have successfully identified AR mutations in a large number (about 39%) of such cases. Wherever available, samples of other family members were also analyzed for identification of the pathogenic mutation (22)(23)(24)(25)(26). Therefore, the molecular diagnosis of AIS has now been well established.…”

Section: Identification Of the Mutational Hot Spotsmentioning

confidence: 99%

Androgen insensitivity syndrome ten years of our experience

Subramaniam

Rajender²,

Tilak³

et al. 2013

Front Biosci

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Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenotypic females but genetically male individuals. Over the past 10 years, we have collected data related to androgen insensitivity from more than 150 cases. The research identified several important but neglected facts about this syndrome; including the identification of mutations in 39% of the cases and the establishment of the cause of pathogenesis in 60% of them. The most intriguing facts were uncovered in relation to late presentation of the AIS cases, little awareness among patients and family members, no consensus on the age of performing gonadectomy, and reluctance of the patients to undergo recommended surgery. These issues need immediate attention to improve healthcare and management of AIS cases. This article summarizes our observations about AIS with an aim to spread awareness among patients and clinicians.

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Section: Identification Of the Mutational Hot Spotsmentioning

confidence: 99%

Androgen insensitivity syndrome ten years of our experience

Subramaniam

Rajender²,

Tilak³

et al. 2013

Front Biosci

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“…Interestingly, this region (53,940,129 bp–115,135,321 bp) on chromosome X harbors the Androgen Receptor gene ( AR ; chrX:60,314,522 bp–60,504,529 bp Sscrofa10.2), which is a great candidate gene for the inguinal hernias, trait that is under our study. Mutations in the androgen receptor that causes androgen insensitivity have been previously associated with inguinal hernia [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Identification of Genetic Regions Associated with Scrotal Hernias in a Commercial Swine Herd

Lago

Silva

Zanella

et al. 2018

Veterinary Sciences

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In this paper, we have used two approaches to detect genetic associations with scrotal hernias in commercial pigs. Firstly, we have investigated the effects of runs of homozygosity (ROH) with the appearance of scrotal hernias, followed by a Genome Wide Association Study (GWAS). The phenotype classification was based on visual appearance of scrotal hernias. Each affected animal was matched to a healthy control from the same pen. In the total, 68 animals were genotyped using the Porcine SNP60 Beadchip, out of those, 41 animals had the presence of hernias and 27 were healthy animals. Fifteen animals were removed from the analysis due to differences in genetic background, leaving 18 healthy animals and 35 piglets with scrotal hernia. Further, the detection of extended haplotypes shared ROH were conducted for health (control) and affected (case) animals and a permutation test was used to test whether the ROH segments were more frequent in case/case pairs than non-case/case pairs. Using the ROH, we have identified an association (p = 0.019) on chromosome 2(SSC2) being segregated on animals with the presence of scrotal hernias. Using a GWAS, a region composed by 3 SNPs on the sexual chromosome X (SSCX) were associated with scrotal hernias (p < 1.6 × 10−5), this region harbors the Androgen Receptor Gene (AR).

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“…Exons 7 and 8 are well‐known hot spots for mutations in the AR gene that lead to CAIS . In this area, a mutation was detected for case 1 but no mutations were detected for cases 2 and 3.…”

Section: Discussionmentioning

confidence: 99%

“…Exons 7 and 8 are well-known hot spots for mutations in the AR gene that lead to CAIS. 3,[11][12][13][14][15] In this area, a mutation was detected for case 1 but no mutations were detected for cases 2 and 3. In case 3, a nonsense mutation was found in the triplet repeat area.…”

Section: Discussionmentioning

confidence: 99%