Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure

Bouali, Nouha; Hmida, D.; Mougou, Soumaya; Bouligand, Jérôme; Lakhal, Besma; Dimessi, Sarra; Francou, Bruno; Saad, G.; Trabelsi, Saoussen; Zaouali, Monia; Gribaa, Moez; Chaïeb, M.; Bibi, M.; Guiochon‐Mantel, Anne; Sarkhosh, Ali

doi:10.1016/j.ando.2015.10.001

Cited by 12 publications

(17 citation statements)

References 32 publications

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“…Genomic DNA extraction was performed as previously described (13). Conventional cytogenetic analysis, FMR1 gene premutation screening, and 180Karray comparative genomic hybridization were performed for all family members, as previously described (13).…”

Section: Genetic Studiesmentioning

confidence: 99%

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

Bouali

Francou²,

Bouligand

et al. 2017

Fertility and Sterility

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Section: Genetic Studiesmentioning

confidence: 99%

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

Bouali

Francou²,

Bouligand

et al. 2017

Fertility and Sterility

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“…Table 1 shows the prevalence of FMR1 premutation detected in POF patients from studies performed in different countries. 3,4,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] 23 Italy (8%) Murray 24 UK 254 POF (2%) Guo 25 Han Chinese 2/379 POF (0.5%) Bouali et al 26 Tunusia 5/100 POF (5%) Lu et al 7 Han Chinese 1/122 POF (0.8%)…”

Section: Discussionmentioning

confidence: 99%

Evaluation of FMR1 gene mutations in Turkish women newly diagnosed with primary ovarian failure

Sarıkaya

Tokmak

Çakar

et al. 2019

Int J Reprod Contracept Obstet Gynecol

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Background: One of the known causes of ovarian dysfunction is fragile X mental retardation gene 1 (FMR1) premutation. The prevalence of FMR1 premutation in primary ovarian failure (POF) cases may differ between the studies due to some reasons including POF definition, definition of premutation, and determination of study population, ethnicity, genetic and environmental factors. In this study authors aimed to determine the prevalence of FMR1 mutations in patients who applied to present clinic and diagnosed as POF.Methods: This retrospective cohort study was conducted on 200 women who had been newly diagnosed with POF in present clinic between 2013 and 2014. The presence of cytogenetic fragility was firstly investigated in all patients by using the lymphocyte culture method, and molecular analysis of the FMR1 gene was then performed. Genomic DNA’s of cases were isolated using standard protocols, followed by polymerase chain reaction amplification with an appropriate program. Fragment analysis of the amplification products were performed by agarose gel electrophoresis.Results: Cytogenetic analysis results in 200 cases were numerically and structurally normal in all patients, and as a result of molecular genetic analysis of FMR1 gene; 1 (0.5%) patient had complete mutation and 9 (4.5%) patients had premutation carriage.Conclusions: FMR1 gene mutations are common in women with POF. These mutations should be investigated in all patients presenting with POF, particularly in cases with early onset and family history of POF, and also genetic counseling should be given to those patients.

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“…Inclusion criteria were as previously described . A control population of 200 ethnically matched women with normal reproductive history was also included for genetic investigation.…”

Section: Methodsmentioning

confidence: 99%

“…Genomic DNA extraction was performed as previously described . Coding exons and flanking intronic boundaries of NOBOX, BMP15 and GDF9 genes were sequenced as previously described (primer sequences are available upon request).…”

Section: Methodsmentioning

confidence: 99%

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

et al. 2016

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Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem. The sequencing of BMP15 and GDF9 gene revealed only previously reported variants. In contrast to previous studies, the prevalence of BMP15 variations is not higher than in the control population. Conversely, 6.4% of the cases present a NOBOX mutations; this high prevalence strengthens the consideration of NOBOX gene as strong autosomal candidate for POI.

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Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure

Cited by 12 publications

References 32 publications

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

Evaluation of FMR1 gene mutations in Turkish women newly diagnosed with primary ovarian failure

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

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