Fertility and sterility · 2004
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
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Kosaki Kenjiro, Sato Seiji, Hasegawa Tomonobu, Matsuo Nobutake, Suzuki Taichi, Ogata Tsutomu
Аннотация
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.
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.