Acta Laser Biology Sinica, Volume. 30, Issue 4, 378(2021)
A Novel Compound Heterozygous Variants of FSHR Gene Lead to Hypergonadotropic Amenorrhea and Infertility
[1] [1] JIANG X, LIU H, CHRN X, et al. Structure of follicle-stimulating hormone in complex with the entire ectodomain of its receptor[J]. Proceedings of the National Academy of Sciences of the United States of America, 2012, 109(31): 12491-12496.
[2] [2] AITTOMAKI K, LUCENA J L, PAKARINEN P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure[J]. Cell, 1995, 82(6): 959-968.
[3] [3] KHOR S, LYU Q, KUANG Y, et al. Novel FSHR variants causing female resistant ovary syndrome[J]. Molecular Genetics & Genomic Medicine, 2020, 8(2): e1082.
[4] [4] FLAGEOLE C, TOUFAILY C, BERNARD D J, et al. Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: a case report[J]. Journal of Assisted Reproduction and Genetics, 2019, 36(3): 425-432.
[5] [5] BRAMBLE M S, GOLDSTEIN E H, LIPSON A, et al. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing[J]. Human Reproduction (Oxford, England), 2016, 31(4): 905-914.
[7] [7] QIN Y, JIAO X, SIMPSON J L, et al. Genetics of primary ovarian insufficiency: new developments and opportunities[J]. Human Reproduction Update, 2015, 21(6): 787-808.
[8] [8] HALLER-KIKKATALO K, SALUMETS A, UIBO R. Review on autoimmune reactions in female infertility: antibodies to follicle stimulating hormone[J]. Clinical & Developmental Immunology, 2012, 2012: 762541.
[9] [9] JONES G S, DE MORAES-RUEHSEN M. A new syndrome of amenorrhae in association with hypergonadotropism and apparently normal ovarian follicular apparatus[J]. American Journal of Obstetrics and Gynecology, 1969, 104(4): 597-600.
[10] [10] ROGENHOFER N, PAVLIK R, JESCHKE U, et al. Effective ovarian stimulation in a patient with resistant ovary syndrome and antigonadotrophin antibodies[J]. American Journal of Reproductive Immunology, 2015, 73(2): 185-191.
[11] [11] TAPANAINEN J S, AITTOMAKI K, MIN J, et al. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility[J]. Nature Genetics, 1997, 15(2): 205-206.
[13] [13] MCLAREN W, PRITCHARD B, RIOS D, et al. Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor[J]. Bioinformatics (Oxford, England), 2010, 26(16): 2069-2070.
[14] [14] NG P C, HENIKOFF S. Predicting deleterious amino acid substitutions[J]. Genome Research, 2001, 11(5): 863-874.
[15] [15] RAMENSKY V, BORK P, SUNYAEV S. Human non-synonymous SNPs: server and survey[J]. Nucleic Acids Research, 2002, 30(17): 3894-3900.
[16] [16] ADZHUBEI I A, SCHMIDT S, PESHKIN L, et al. A method and server for predicting damaging missense mutations[J]. Nature Methods, 2010, 7(4): 248-249.
[17] [17] RICHARDS S, AZIZ N, BALE S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 2015, 17(5): 405-424.
[18] [18] DEN DUNNEN J T, DALGLEISH R, MAGLOTT D R, et al. HGVS recommendations for the description of sequence variants: 2016 Uupdate[J]. Human Mutation, 2016, 37(6): 564-569.
[19] [19] EDGAR R C. MUSCLE: multiple sequence alignment with high accuracy and high throughput[J]. Nucleic Acids Research, 2004, 32(5): 1792-1797.
[20] [20] MEDURI G, TOURAINE P, BEAU I, et al. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies[J]. The Journal of Clinical Endocrinology and Metabolism, 2003, 88(8): 3491-3498.
Get Citation
Copy Citation Text
CHEN Xiaoqin, LEI Caixia, XI Yanping, XIAO Min. A Novel Compound Heterozygous Variants of FSHR Gene Lead to Hypergonadotropic Amenorrhea and Infertility[J]. Acta Laser Biology Sinica, 2021, 30(4): 378
Category:
Received: Jun. 21, 2021
Accepted: --
Published Online: Sep. 12, 2021
The Author Email: