Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)  

Oleh:

Janse, Femi ; de With, Larissa M. ; Duran, Karen J. ; Kloosterman, Wigard P.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 97 no. 01 (Jan. 2012), page 141-146.
Topik: OVARIAN; Primary ovarian insufficiency; POI; steroidogenic factor 1; SF-1; NR5A1

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2012.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Objective To evaluate the significance of NR5A1 mutations in a large, well-phenotyped cohort of women with primary ovarian insufficiency (POI). Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency. Recently, a high frequency of NR5A1 gene mutations was reported in a small group of women with POI. Design Cross-sectional cohort study. Setting University hospital. Patient(s) Well-phenotyped women (n = 386) with secondary amenorrhea and diagnosed with POI, including women with familial POI (n = 77). Intervention(s) None. Main Outcome Measure(s) The entire coding region and splice sites of the NR5A1 gene were PCR-amplified and sequenced. The pathogenicity of identified mutations was predicted in silico by assessing Align-GVGD class and Grantham score. Result(s) Sequencing was successful in 356 patients with POI. In total, 9 mutations were identified in 10 patients. Five of these mutations concerned novel nonconservative mutations occurring in 5 patients. Prediction of effect on protein function showed low to intermediate pathogenicity for all nonconservative mutations. The overall NR5A1 gene mutation rate was 1.4%. Conclusion(s) The current study demonstrates that mutations in the NR5A1 gene are rare in women with POI. Primary ovarian insufficiency remains unexplained in the great majority of patients; therefore, continued efforts are needed to elucidate its underlying genetic factors.

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