premature ovarian failure

- Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotropic ovarian failure and infertility.

Pathology

- germline NOBOX homeobox mutation causes premature ovarian failure. (17701902)

  • NOBOX (newborn ovary homeobox gene) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis and represents a candidate gene for nonsyndromic ovarian failure.
  • NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, NOBOX is essential for folliculogenesis and regulation of oocyte-specific genes.

- germline FIGLA mutations (18499083)

  • The mouse basic helix-loop-helix (HLH) transcription factor Figla is required for normal folliculogenesis. The predicted FIGLA protein contains 186 amino acids and shares 68% identity with mouse Figla and 25% identity with a putative medaka homolog. The basic helix-loop-helix region of FIGLA shares 96% and 57% identity with those of mouse and medaka Figla, respectively. (18499083)

See also

- ovarian failures

References

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 May 20. PMID: 18499083

- Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007 Sep;81(3):576-81. PMID: 17701902

- Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999 Dec 29;89(4):186-200. PMID: 10727994

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