Premature ovarian failure in a female with proximal symphalangism and Noggin mutation |
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Authors: | Kosaki Kenjiro Sato Seiji Hasegawa Tomonobu Matsuo Nobutake Suzuki Taichi Ogata Tsutomu |
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Institution: | Keio University School of Medicine, Tokyo, Japan. |
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Abstract: | OBJECTIVE: To report a case of premature ovarian failure (POF) and a mutation of the gene for Noggin (NOG). DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 33-year-old Japanese female with POF and proximal symphalangism. INTERVENTION(S): Direct sequence analysis of the NOG gene. MAIN OUTCOME MEASURE(S): Occurrence of POF. RESULT(S): A novel heterozygous G to A transition was identified at the nucleotide position 142 (142 G>A), which is predicted to cause an amino acid substitution of glutamic acid by lysine (E48K). CONCLUSION(S): Because NOG is expressed in the ovary and interacts with bone morphogenetic proteins, which play an important role in the ovarian function, a NOG mutation may constitute one of the multiple susceptibility genes for the development of POF. |
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Keywords: | Premature ovarian failure Noggin proximal symphalangism susceptibility gene |
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