A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

Francesca Rossetti, Flavio Rizzolio, Tiziano Pramparo, Cinzia Sala, Silvia Bione, Franca Bernardi, Mara Goegan, Orsetta Zuffardi, Daniela Toniolo

Research output: Contribution to journalArticle

Abstract

Terminal deletions of the long arm of the human X chromosome have been described in women with premature ovarian failure (POF). We report here the molecular characterization of an inherited deletion in two affected women and in their mother. The two daughters presented secondary amenorrhea at 17 or 22 years respectively, while the mother was fertile. She had four children, but she eventually had premature menopause at 43 years of age. The fine molecular analysis of the deletion showed that the three women carried an identical deletion. We conclude that the phenotypic difference within the family must be attributed to genetic or environmental factors and not to the presence of different extent deletions. By comparison with other deletions in the region, we map a susceptibility gene for POF to 4.5 Mb, in the distal part of Xq.

Original languageEnglish
Pages (from-to)829-834
Number of pages6
JournalEuropean Journal of Human Genetics
Volume12
Issue number10
DOIs
Publication statusPublished - Oct 2004

Fingerprint

Primary Ovarian Insufficiency
Premature Menopause
Chromosomes, Human, X
Mothers
Genes
Amenorrhea
Nuclear Family

Keywords

  • POF
  • Turner syndrome
  • Xq deletions

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Rossetti, F., Rizzolio, F., Pramparo, T., Sala, C., Bione, S., Bernardi, F., ... Toniolo, D. (2004). A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. European Journal of Human Genetics, 12(10), 829-834. https://doi.org/10.1038/sj.ejhg.5201186

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. / Rossetti, Francesca; Rizzolio, Flavio; Pramparo, Tiziano; Sala, Cinzia; Bione, Silvia; Bernardi, Franca; Goegan, Mara; Zuffardi, Orsetta; Toniolo, Daniela.

In: European Journal of Human Genetics, Vol. 12, No. 10, 10.2004, p. 829-834.

Research output: Contribution to journalArticle

Rossetti, F, Rizzolio, F, Pramparo, T, Sala, C, Bione, S, Bernardi, F, Goegan, M, Zuffardi, O & Toniolo, D 2004, 'A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28', European Journal of Human Genetics, vol. 12, no. 10, pp. 829-834. https://doi.org/10.1038/sj.ejhg.5201186
Rossetti, Francesca ; Rizzolio, Flavio ; Pramparo, Tiziano ; Sala, Cinzia ; Bione, Silvia ; Bernardi, Franca ; Goegan, Mara ; Zuffardi, Orsetta ; Toniolo, Daniela. / A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. In: European Journal of Human Genetics. 2004 ; Vol. 12, No. 10. pp. 829-834.
@article{77b561460ac641deb734a6869535150b,
title = "A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28",
abstract = "Terminal deletions of the long arm of the human X chromosome have been described in women with premature ovarian failure (POF). We report here the molecular characterization of an inherited deletion in two affected women and in their mother. The two daughters presented secondary amenorrhea at 17 or 22 years respectively, while the mother was fertile. She had four children, but she eventually had premature menopause at 43 years of age. The fine molecular analysis of the deletion showed that the three women carried an identical deletion. We conclude that the phenotypic difference within the family must be attributed to genetic or environmental factors and not to the presence of different extent deletions. By comparison with other deletions in the region, we map a susceptibility gene for POF to 4.5 Mb, in the distal part of Xq.",
keywords = "POF, Turner syndrome, Xq deletions",
author = "Francesca Rossetti and Flavio Rizzolio and Tiziano Pramparo and Cinzia Sala and Silvia Bione and Franca Bernardi and Mara Goegan and Orsetta Zuffardi and Daniela Toniolo",
year = "2004",
month = "10",
doi = "10.1038/sj.ejhg.5201186",
language = "English",
volume = "12",
pages = "829--834",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "10",

}

TY - JOUR

T1 - A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

AU - Rossetti, Francesca

AU - Rizzolio, Flavio

AU - Pramparo, Tiziano

AU - Sala, Cinzia

AU - Bione, Silvia

AU - Bernardi, Franca

AU - Goegan, Mara

AU - Zuffardi, Orsetta

AU - Toniolo, Daniela

PY - 2004/10

Y1 - 2004/10

N2 - Terminal deletions of the long arm of the human X chromosome have been described in women with premature ovarian failure (POF). We report here the molecular characterization of an inherited deletion in two affected women and in their mother. The two daughters presented secondary amenorrhea at 17 or 22 years respectively, while the mother was fertile. She had four children, but she eventually had premature menopause at 43 years of age. The fine molecular analysis of the deletion showed that the three women carried an identical deletion. We conclude that the phenotypic difference within the family must be attributed to genetic or environmental factors and not to the presence of different extent deletions. By comparison with other deletions in the region, we map a susceptibility gene for POF to 4.5 Mb, in the distal part of Xq.

AB - Terminal deletions of the long arm of the human X chromosome have been described in women with premature ovarian failure (POF). We report here the molecular characterization of an inherited deletion in two affected women and in their mother. The two daughters presented secondary amenorrhea at 17 or 22 years respectively, while the mother was fertile. She had four children, but she eventually had premature menopause at 43 years of age. The fine molecular analysis of the deletion showed that the three women carried an identical deletion. We conclude that the phenotypic difference within the family must be attributed to genetic or environmental factors and not to the presence of different extent deletions. By comparison with other deletions in the region, we map a susceptibility gene for POF to 4.5 Mb, in the distal part of Xq.

KW - POF

KW - Turner syndrome

KW - Xq deletions

UR - http://www.scopus.com/inward/record.url?scp=6444220656&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=6444220656&partnerID=8YFLogxK

U2 - 10.1038/sj.ejhg.5201186

DO - 10.1038/sj.ejhg.5201186

M3 - Article

C2 - 15280899

AN - SCOPUS:6444220656

VL - 12

SP - 829

EP - 834

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 10

ER -