Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure

被引：13

作者：

Ni, Feng ^{[2
,3
]}

Wen, Qiaolian ^{[4
]}

Wang, Binbin ^{[4
]}

Zhou, Sirui ^{[4
]}

Wang, Jing ^{[4
]}

Mu, Yuan ^{[4
]}

Ma, Xu ^{[1
,4
,5
]}

Cao, Yunxia ^{[2
]}

机构：

[1] Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China

[2] Anhui Med Univ, Affiliated Hosp 1, Reprod Med Ctr, Hefei, Peoples R China

[3] 105th Hosp, Reprod Med Ctr, Hefei, Peoples R China

[4] Peking Union Med Coll, Grad Sch, Beijing, Peoples R China

[5] World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China

来源：

GYNECOLOGICAL ENDOCRINOLOGY | 2010年 / 26卷 / 04期

关键词：

FOXL2; premature ovarian failure; BPES; sequencing; BLEPHAROPHIMOSIS/PTOSIS/EPICANTHUS INVERSUS SYNDROME; GENOTYPE-PHENOTYPE CORRELATION; BLEPHAROPHIMOSIS; PTOSIS; BPES;

D O I：

10.3109/09513590903225358

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Premature ovarian failure (POF) has recently been associated with mutations in Forkhead L2 (FOXL2) gene, which also being a candidate for blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome. In the current study, we performed a screening analysis by polymerase chain reaction and direct sequencing in 118 patients, including one with BPES and her family of six members. The results came back with no novel mutations but one common 30 bp duplication within FOXL2 polyalanine tract in the abovementioned POF plus BPES patient, suggesting mutations in FOXL2 gene was not common among Chinese patients with POF.</.

引用

页码：246 / 249

页数：4

共 50 条

[1] Screening for FOXL2 gene mutations in women with premature ovarian failure:: an Indian experience
Chatterjee, Supama
REPRODUCTIVE BIOMEDICINE ONLINE, 2007, 15 (05) : 554 - 560
[2] Clinical case of premature ovarian failure in combination with blepharophimosis-ptosisepicanthus inversus due to mutation in FOXL2 gene
Enikeeva, Sofia
Kolodkina, Anna
Tihonovich, Julia
HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 397 - 397
[3] Potential mechanism of FOXL2 mutations in premature ovarian failure.
Pisarska, MD
Bae, J
Hsueh, AJW
JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION, 2004, 11 (02) : 313A - 313A
[4] Identification of novel mutations in FOXL2 associated with premature ovarian failure
Harris, SE
Chand, AL
Winship, IM
Gersak, K
Aittomäki, K
Shelling, AN
MOLECULAR HUMAN REPRODUCTION, 2002, 8 (08) : 729 - 733
[5] Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure
Bodega, B
Porta, C
Crosignani, PG
Ginelli, E
Marozzi, A
MOLECULAR HUMAN REPRODUCTION, 2004, 10 (08) : 555 - 557
[6] Expression and functional analysis of forkhead L2 (FOXL2), the gene involved in premature ovarian failure.
Pisarska, MD
Bae, J
Hsueh, AJW
FERTILITY AND STERILITY, 2003, 80 : S28 - S28
[7] A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
Silva Correa, Frederico Jose
Tavares, Adriano Bueno
Pereira, Rinaldo Wellerson
Abrao, Mauricio Simoes
FERTILITY AND STERILITY, 2010, 93 (03) : 1006.e3 - 1006.e6
[8] Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
Tang, SJ
Wang, XK
Lin, LX
Sun, Y
Wang, YL
Yu, HB
MUTAGENESIS, 2006, 21 (01) : 35 - 39
[9] FOXL2: a gene central to ovarian function
Mubeen, Aysha
Parra-Herran, Carlos
JOURNAL OF CLINICAL PATHOLOGY, 2023, 76 (12) : 798 - 801
[10] FOXL2, a gene associated with premature ovarian failure, interacts with large tumor suppressor gene 1 (LATS1).
Kumetz, L.
Khan, S.
Zarrini, P.
Trivax, B.
Kao, L.
Pisarska, M. D.
FERTILITY AND STERILITY, 2006, 86 : S11 - S12

← 1 2 3 4 5 →