Genetic aspects of premature ovarian failure

Journal fur Reproduktionsmedizin und Endokrinologie

Volumn 6, Issue 1, 2009, Pages 17-18

  Wieacker, P ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Chromosome aberrations; Gene mutations; Premature ovarian failure

Indexed keywords

FRAGILE X SYNDROME; GENE MUTATION; GENETIC RISK; GONADAL DYSGENESIS; HUMAN; MONOGENIC DISORDER; PREMATURE OVARIAN FAILURE; SHORT SURVEY; X CHROMOSOME;

EID: 62449209168     PISSN: 18102107     EISSN: 18109292     Source Type: Journal    
DOI: None     Document Type: Short Survey

References (15)

1. Beck-Peccoz P, Persani L. Premature ovarian failure. Orphanet J Rare Dis 2006;6:1-9.
2. Portnoi MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, Frydman R, Reyss AC, Brisset S, Christin-Maitre S. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure. Hum Reprod 2006;21:2329-34.
3. Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, Pramparo T, Zuffardi O, Toniolo D. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome:a hypothesis. Hum Genet 2007;121:441-50.
4. Aittomaki K, Herva R, Stenman UH, Juntunen K, Ylostalo P, Hovatta O, De la Chapelle A. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab 1996;81:3722-6.
5. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet 2006;79:113-9.
6. Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 2004;75:106-11.
7. Laissue P, Christin-Maitre et al Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol 2006;154:739-44.
8. Ledig S, Röpke A, Häusler G, Hinney B, Wieacker P. BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol 2008;198:84.
9. Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet 2007;81:576-81.
10. Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet 2008;82:1342-8.
11. Bretherick KL, Metzger DL, Chanoine JP, Panagiotopoulos C, Watson SK, Lam WL, Fluker MR, Brown CJ, Robinson WP. Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure. Am J Med Genet 2007;143:945-51.
12. Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update 2005;11:391-410.
13. Amati P, Gasparini P, Zlotogora J, Zelante L, Chomel JC, Kitzis A, Kaplan J, Bonneau D. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 1996;58:1089-92.
14. Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL. Gonadal (ovarian) dysgenesis in 46,XX individuals:frequency of the autosomal recessive form. Am J Med Genet 1996;63:518-24.
15. Duda HC, Weirich HG, Weirich-Schwaiger H, Utermann B, Nachbaur D, Solder E, Utermann G. Chromosomal instability in a woman with infertility and two unaffected brothers:a new familial chromosomal breakage syndrome? Hum Genet 1997;100:431-40.