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Fertil Steril. 2004 Apr;81(4):1137-9.

Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.

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  • 1Keio University School of Medicine, Tokyo, Japan.

Abstract

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.

[PubMed - indexed for MEDLINE]
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