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.
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.
Authors: K Lehmann; P Seemann; F Silan; T O Goecke; S Irgang; K W Kjaer; S Kjaergaard; M J Mahoney; S Morlot; C Reissner; B Kerr; A O M Wilkie; S Mundlos Journal: Am J Hum Genet Date: 2007-06-08 Impact factor: 11.025
Authors: Polona Le Quesne Stabej; Hywel J Williams; Chela James; Mehmet Tekman; Horia C Stanescu; Robert Kleta; Louise Ocaka; Francesco Lescai; Helen L Storr; Maria Bitner-Glindzicz; Chiara Bacchelli; Gerard S Conway Journal: Eur J Hum Genet Date: 2015-06-10 Impact factor: 4.246