Skip Navigation

This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Cramer, D. W.
Right arrow Articles by Reichardt, J. K.V.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cramer, D. W.
Right arrow Articles by Reichardt, J. K.V.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Molecular Human Reproduction Vol. 2, NUMBER 3 pp. 145-148, 1996
© European Society of Human Reproduction and Embryology 1996

research-article

Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT)

Daniel W. Cramer1,3, Donald Peter Goldstein1, Cameron Fraer1 and Jürgen K.V. Reichardt2

1Department of Obstetrics and Gynecology and the OB-GYN Epidemiology Center Brigham and Women's Hospital 221 Longwood Avenue, Boston, MA 02115 2Department of Biochemistry and Molecular Biology and the Institute for Genetic Medicine, U.S.C. School of Medicine Los Angeles, CA 90033, USA

To whom correspondence should be addressed at: 3To whom correspondence should be addresed

To follow-up our previous observation that vaginal agenesis might be associated with decreased activity of galactose-1-phosphate uridyl transferase (GALT), we studied activity and genotype of GALT in 13 daughters with vaginal agenesis and their mothers. For comparison, GALT measurements were available from 113 pre-menopausal women with no known Müllerian anomalies selected from the general population. Red cell GALT activity was significantly lower in both the daughters and their mothers in comparison with general population controls. Six out of thirteen (46%) daughters and two mothers of the remaining seven daughters (29%) were carriers for the N314D mutation of GALT associated with the Duarte variant of galactosaemia as compared to 16 out of 113 general population controls (14%) who possessed at least one N314D allele. Pigmentary skin changes and scoliosis were associated phenotypic findings in daughters with vaginal agenesis. We conclude that fetal or maternal GALT mutations that decrease GALT activity may be associated with vaginal agenesis and have, as their possible biological basis, increased intrauterine exposure to galactose which has been demonstrated in rodents to cause decreased oocyte survival and delayed vaginal opening in offspring.

galactose-1-phosphate uridyl transferase/Mullerian anomalies/scoliosis/vaginal agenesis


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum ReprodHome page
P. Oppelt, P.L. Strissel, A. Kellermann, S. Seeber, A. Humeny, M.W. Beckmann, and R. Strick
DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome
Hum. Reprod., January 1, 2005; 20(1): 149 - 157.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
S. Klipstein, B. Bhagavath, C. Topipat, L. Sasur, R.H. Reindollar, and M.R. Gray
The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina
Mol. Hum. Reprod., March 1, 2003; 9(3): 171 - 174.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
D. W. Cramer, E. R. Greenberg, L. Titus-Ernstoff, R. F. Liberman, W. R. Welch, E. Li, and W. G. Ng
A Case-Control Study of Galactose Consumption and Metabolism in Relation to Ovarian Cancer
Cancer Epidemiol. Biomarkers Prev., January 1, 2000; 9(1): 95 - 101.
[Abstract] [Full Text]

Home page
 Mol Hum ReprodHome page
R.M. Hadfield, S. Manek, S. Nakago, S. Mukherjee, D.E. Weeks, H.J. Mardon, D.H. Barlow, and S.H. Kennedy
Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population
Mol. Hum. Reprod., October 1, 1999; 5(10): 990 - 993.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.