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

Kenjiro Kosaki, Seiji Sato, Tomonobu Hasegawa, Nobutake Matsuo, Taichi Suzuki, Tsutomu Ogata

Research output: Contribution to journalArticle

26 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1137-1139
Number of pages3
JournalFertility and Sterility
Volume81
Issue number4
DOIs
Publication statusPublished - 2004 Apr

Fingerprint

Primary Ovarian Insufficiency
Mutation
Genes
losigame
Bone Morphogenetic Proteins
Amino Acid Substitution
Lysine
Sequence Analysis
Glutamic Acid
Ovary
Nucleotides
Outcome Assessment (Health Care)
Cushing's symphalangism

Keywords

  • Noggin
  • Premature ovarian failure
  • Proximal symphalangism
  • Susceptibility gene

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. / Kosaki, Kenjiro; Sato, Seiji; Hasegawa, Tomonobu; Matsuo, Nobutake; Suzuki, Taichi; Ogata, Tsutomu.

In: Fertility and Sterility, Vol. 81, No. 4, 04.2004, p. 1137-1139.

Research output: Contribution to journalArticle

Kosaki, Kenjiro ; Sato, Seiji ; Hasegawa, Tomonobu ; Matsuo, Nobutake ; Suzuki, Taichi ; Ogata, Tsutomu. / Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. In: Fertility and Sterility. 2004 ; Vol. 81, No. 4. pp. 1137-1139.
@article{48760b70e9ee41a99060fd82a3f70153,
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). 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.",
keywords = "Noggin, Premature ovarian failure, Proximal symphalangism, Susceptibility gene",
author = "Kenjiro Kosaki and Seiji Sato and Tomonobu Hasegawa and Nobutake Matsuo and Taichi Suzuki and Tsutomu Ogata",
year = "2004",
month = "4",
doi = "10.1016/j.fertnstert.2003.08.054",
language = "English",
volume = "81",
pages = "1137--1139",
journal = "Fertility and Sterility",
issn = "0015-0282",
publisher = "Elsevier Inc.",
number = "4",

}

TY - JOUR

T1 - Premature ovarian failure in a female with proximal symphalangism and Noggin mutation

AU - Kosaki, Kenjiro

AU - Sato, Seiji

AU - Hasegawa, Tomonobu

AU - Matsuo, Nobutake

AU - Suzuki, Taichi

AU - Ogata, Tsutomu

PY - 2004/4

Y1 - 2004/4

N2 - 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.

AB - 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.

KW - Noggin

KW - Premature ovarian failure

KW - Proximal symphalangism

KW - Susceptibility gene

UR - http://www.scopus.com/inward/record.url?scp=1842526871&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1842526871&partnerID=8YFLogxK

U2 - 10.1016/j.fertnstert.2003.08.054

DO - 10.1016/j.fertnstert.2003.08.054

M3 - Article

VL - 81

SP - 1137

EP - 1139

JO - Fertility and Sterility

JF - Fertility and Sterility

SN - 0015-0282

IS - 4

ER -