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Premature ovarian failure in a female with proximal symphalangism and Noggin mutation
Kenjiro Kosaki1, Seiji Sato, Tomonobu Hasegawa
1Keio University School of Medicine, Tokyo, Japan.
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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