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. (Fertil Steril(R) 2004;81:1137-9. (C) 2004 by American Society for Reproductive Medicine.).