The genetic basis of premature ovarian failure

被引:88
作者
Woad, KJ [1 ]
Watkins, WJ [1 ]
Prendergast, D [1 ]
Shelling, AN [1 ]
机构
[1] Univ Auckland, Fac Med & Hlth Sci, Dept Obstet & Gynaecol, Auckland 1, New Zealand
关键词
candidate gene; FOXL2; genetic disorder; inhibin; premature ovarian failure;
D O I
10.1111/j.1479-828X.2006.00585.x
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Premature ovarian failure (POF) is a common condition, affecting approximately 1:100 women. It is characterised by amenorrhea, hypoestrogenism, and elevated gonadotrophin levels in women under the age of 40. It is often an unexpected and distressing diagnosis, which coincides with infertility and menopausal symptoms. There is a well recognised genetic basis to the development of POF. Our laboratory has identified several candidate genes associated with POF.
引用
收藏
页码:242 / 244
页数:3
相关论文
共 20 条
[1]   MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J].
AITTOMAKI, K ;
LUCENA, JLD ;
PAKARINEN, P ;
SISTONEN, P ;
TAPANAINEN, J ;
GROMOLL, J ;
KASKIKARI, R ;
SANKILA, EM ;
LEHVASLAIHO, H ;
ENGEL, AR ;
NIESCHLAG, E ;
HUHTANIEMI, I ;
DELACHAPELLE, A .
CELL, 1995, 82 (06) :959-968
[2]   The human FOXL2 mutation database [J].
Beysen, D ;
Vandesompele, J ;
Messiaen, L ;
De Paepe, A ;
De Baere, E .
HUMAN MUTATION, 2004, 24 (03) :189-193
[3]  
Conway GS, 1997, CURR OPIN OBSTET GYN, V9, P202
[4]  
COULAM CB, 1986, OBSTET GYNECOL, V67, P604
[5]   The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome [J].
Crisponi, L ;
Deiana, M ;
Loi, A ;
Chiappe, F ;
Uda, M ;
Amati, P ;
Bisceglia, L ;
Zelante, L ;
Nagaraja, R ;
Porcu, S ;
Ristaldi, MS ;
Marzella, R ;
Rocchi, M ;
Nicolino, M ;
Lienhardt-Roussie, A ;
Nivelon, A ;
Verloes, A ;
Schlessinger, D ;
Gasparini, P ;
Bonneau, D ;
Cao, A ;
Pilia, G .
NATURE GENETICS, 2001, 27 (02) :159-166
[6]   Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation [J].
De Baere, E ;
Dixon, MJ ;
Small, KW ;
Jabs, EW ;
Leroy, BP ;
Devriendt, K ;
Gillerot, Y ;
Mortier, G ;
Meire, F ;
Van Maldergem, L ;
Courtens, W ;
Hjalgrim, H ;
Huang, S ;
Liebaers, I ;
Van Regemorter, N ;
Touraine, P ;
Praphanphoj, V ;
Verloes, A ;
Udar, N ;
Yellore, V ;
Chalukya, M ;
Yelchits, S ;
De Paepe, A ;
Kuttenn, F ;
Fellous, M ;
Veitia, R ;
Messiaen, L .
HUMAN MOLECULAR GENETICS, 2001, 10 (15) :1591-1600
[7]   Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure [J].
Dixit, H ;
Deendayal, M ;
Singh, L .
HUMAN REPRODUCTION, 2004, 19 (08) :1760-1764
[8]   INHA promoter polymorphisms are associated with premature ovarian failure [J].
Harris, SE ;
Chand, AL ;
Winship, IM ;
Gersak, K ;
Nishi, Y ;
Yanase, T ;
Nawata, H ;
Shelling, AN .
MOLECULAR HUMAN REPRODUCTION, 2005, 11 (11) :779-784
[9]   Identification of novel mutations in FOXL2 associated with premature ovarian failure [J].
Harris, SE ;
Chand, AL ;
Winship, IM ;
Gersak, K ;
Aittomäki, K ;
Shelling, AN .
MOLECULAR HUMAN REPRODUCTION, 2002, 8 (08) :729-733
[10]   G769A variation of inhibin α-gene in Korean women with premature ovarian failure [J].
Jeong, HJ ;
Cho, SW ;
Kim, HA ;
Lee, SH ;
Cho, JH ;
Choi, DH ;
Kwon, H ;
Cha, WT ;
Han, JE ;
Cha, KY .
YONSEI MEDICAL JOURNAL, 2004, 45 (03) :479-482