Transcription factor FIGLA is mutated in patients with premature ovarian failure.

@article{Zhao2008TranscriptionFF,
  title={Transcription factor FIGLA is mutated in patients with premature ovarian failure.},
  author={Han Zhao and Zi-Jiang Chen and Yingying Qin and YuHua Shi and Shan X. Wang and Youngsok Choi and Joe Leigh Simpson and Aleksandar Rajkovic},
  journal={American journal of human genetics},
  year={2008},
  volume={82 6},
  pages={1342-8}
}
Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotropic ovarian failure and infertility. We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C --> A (p.A4E) was found in two women; deletion c. 15-36 del (p.G6fsX66), resulting in a frameshift that leads to haploinsufficiency, was found in one woman; and deletion c.419-421 delACA (p.140 delN) was… CONTINUE READING
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