Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.

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.