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

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.