title: 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).
  
  
  METHODS
  Case report.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  A 33-year-old Japanese female with POF and proximal symphalangism.
  
  
  METHODS
  Direct sequence analysis of the NOG gene.
  
  
  METHODS
  Occurrence of POF.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.affiliation: Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Seiji
authors.initials: S
authors.lastname: Sato
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Nobutake
authors.initials: N
authors.lastname: Matsuo
authors.forename: Taichi
authors.initials: T
authors.lastname: Suzuki
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D002352:Carrier Proteins; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics*; D011859:Radiography; D014034:Toes / Q000002:abnormalities*; D000099176:Noggin Protein
chemical_list: D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D000099176:Noggin Protein