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NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.

Abstract：

OBJECTIVE:To determine whether NR5A1 (SF-1) variants are a cause of primary ovarian insufficiency (POI) in 26 young women with similar genetic background. DESIGN:Genetic and functional mutation study. SETTING:University hospitals. PATIENT(S):Genetic analysis of the NR5A1 gene in 26 XX girls with POI. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):NR5A1 molecular and functional analysis. RESULT(S):Genetic analysis revealed a new c.763C>T (p.Arg255Cys) mutation and a recurrent c.437G>C (p.Gly146Ala) variant. Functional analysis of the p.Arg255Cys mutant showed a marked decrease in transactivation on the Cyp11a1 and Amh promoters. The p.Gly146Ala variant was identified significantly more often in the patients (46.1%) than in ancestry-matched control subjects (10%). CONCLUSION(S):We identified one new NR5A1 mutation in a patient of our POI cohort (prevalence 3.8%). Moreover, although our study is limited in the number of cases, we report the high frequency of the p.Gly146Ala variant in this cohort compared with the ancestry-matched control subjects. This work highlights the important role of SF-1 in ovarian function.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Philibert P,Paris F,Lakhal B,Audran F,Gaspari L,Saâd A,Christin-Maître S,Bouchard P,Sultan C

doi

10.1016/j.fertnstert.2012.10.026

subject

Has Abstract

pub_date

2013-02-01 00:00:00

pages

484-9

issue

2

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(12)02338-2

journal_volume

99

pub_type

杂志文章

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