No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure

Kohek, Maria Beatriz da Fonte; Batista, Marcelo C.; Russell, Alan J.; Vass, Keith; Giacaglia, Luciano Ricardo; Mendonça, Berenice Bilharinho; Latrônico, Ana Claudia

doi:10.1016/s0015-0282(98)00203-9

Cited by 65 publications

(49 citation statements)

References 4 publications

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“…In accordance with earlier studies [11,13,17], two polymorphic variants at 307 and 680 amino acid position were found to occur in linkage disequilibrium in the present study. Frequency distribution of the haplotypes revealed that prevalence of TT-NS, TT-SS, TA-SS, AA-NN and AA-NS was significantly different between controls and primary amenorrhea subjects.…”

Section: Discussionsupporting

confidence: 93%

“…Other reports from American, German, Brazilian, Mexican and Argentine population [11,12,15,16,30] showed absence of this FSHR gene mutation in the subjects studied. However, Jiang et al, in 1998 [31], identified only one mutation (C 566 T) carrier in large scale screening of 1,162 subjects from Switzerland.…”

Section: Discussionmentioning

confidence: 51%

“…We believe that the C 1723 T transition is a mutation because it was detected in only one case out of the total 236 subjects recruited; controls (n =100), subjects with amenorrhea (n=86) and subjects undergoing Assisted Reproductive Technology programme, having normal cyclicity (n=50; unpublished data), by RFLP analysis and DNA sequencing. This novel mutation has not been reported earlier in any of the studies so far [3,11,14,16,36].…”

Section: Hormonementioning

confidence: 55%

“…The presence of Val at 189 position in FSHR has been reported to interfere with the efficiency of glycosylation resulting in impaired receptor trafficking and folding [38]. In vitro studies showed that the mutated receptor had normal binding affinity and severely reduced plasma membrane expression and signal transduction [11]. In vitro studies for the two mutations, Ile 160 Thr (T 479 C) and Asp 224 Val (A 671 T) showed that these mutations almost completely impair FSH binding and marginal response to FSH stimulation [4].…”

Section: Hormonementioning

confidence: 99%

“…In vitro studies have demonstrated that mutations of FSHR gene have dramatically reduced the receptor expression and impaired proper signal transduction [5,6,10]. It has been reported that no inactivating mutations in FSHR gene were identified in women with polycystic ovary syndrome (PCOs), resistant ovary syndrome (ROS) and premature ovarian failure (POF) [11][12][13][14][15][16].…”

Section: Introductionmentioning

confidence: 99%

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Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Achrekar

Modi

Meherji

et al. 2010

J Assist Reprod Genet

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Purpose This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism. Materials and methods Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene. Results The frequency distribution of polymorphism at −29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at −29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation C 1723 T (Ala 575 Val) in one woman with primary amenorrhea. Conclusions Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position −29. We identified a novel homozygous mutation C 1723 T (Ala 575 Val) in a woman with primary amenorrhea.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 51%

Section: Hormonementioning

confidence: 55%

Section: Hormonementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Achrekar

Modi

Meherji

et al. 2010

J Assist Reprod Genet

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No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis

et al. 2001

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In the ovary FSH is necessary for normal follicular development, binding to its receptor (FSHR) that pertains to the superfamily of G-protein coupled receptors. In the FSHR gene, which consists of 10 exons, an homozygous mutation was reported in six Finnish families with gonadal dysgenesis; whereas two isolated French patients exhibited compound heterozygous mutations. Several groups, however, have searched for FSHR mutations, although in most cases the gene has been studied partially, not finding any genetic abnormalities in German, English, North American or Brazilian women. We performed direct sequencing of all 10 exons of the FSHR gene in seven sporadic patients and two sisters with 46,XX pure gonadal dysgenesis, to investigate the cause of their disorder. No heterozygous or homozygous mutant alleles were present in any of the patients. Although the number of patients evaluated was small, considering all the other previous reports, it seems that except in the Finnish population, the proportion of women with mutations in the encoding region of this gene is very low. Other possibilities for the presence of 46,XX gonadal dysgenesis, such as defects in the regulatory regions of the FSHR gene promoter, in the untranslated regions of exons 1 and 10, and within introns, or the existence of other genes likely to be important for normal ovarian function on the X chromosome or on autosomes, should be considered. In contrast with other studies, we did not find polymorphisms of the FSHR gene, indicating that apparently in Mexicans this gene is not highly polymorphic.

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Primäre Ovarinsuffizienz

Ludwig¹

Klinische Endokrinologie Für Frauenärzte

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No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure

Cited by 65 publications

References 4 publications

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis

Primäre Ovarinsuffizienz

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