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.