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).


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.
Kosaki
Kenjiro
K
Keio University School of Medicine, Tokyo, Japan.
Sato
Seiji
S
Hasegawa
Tomonobu
T
Matsuo
Nobutake
N
Suzuki
Taichi
T
Ogata
Tsutomu
T
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
D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D000099176:Noggin Protein