Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT)

Molecular Human Reproduction

Volumn 2, Issue 3, 1996, Pages 149-152

  Cramer, Daniel W ^a   Hornstein, M D ^a   Ng, W G ^b   Barbieri, R L ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

Endometriosis; Galactose 1 phosphate uridyl transferase; M llerian anomalies; Scoliosis

Indexed keywords

DIETHYLSTILBESTROL; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; POSTCOITUS CONTRACEPTIVE AGENT;

ARTICLE; CAUCASIAN; COMPARATIVE STUDY; CONGENITAL MALFORMATION; ENDOMETRIOSIS; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; METABOLISM; MUELLERIAN DUCT; MUTATION; PREGNANCY; PRENATAL EXPOSURE; SCOLIOSIS;

CONTRACEPTIVES, POSTCOITAL, SYNTHETIC; DIETHYLSTILBESTROL; ENDOMETRIOSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MULLERIAN DUCTS; MUTATION; PREGNANCY; PRENATAL EXPOSURE DELAYED EFFECTS; SCOLIOSIS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0030089477     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/2.3.149     Document Type: Article

References (15)

1. Aughton, D.J. (1993) Müllerian duct abnormalities and galactosemia heterozygosity: report of a family. Clin. Dysmorphol., 2, 55-61.
2. Barbieri, R.L., Callery, M. and Perez, S.E. (1992) Directionality of menstrual flow; cervical os diameter as a determinant of retrograde menstruation. Fertil. Steril., 57, 727-730.
3. Chen, V.T., Mattison, D.R. Feigenbaum, L. et al. (1981) Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science, 214, 1145-1147.
4. Cramer, D.W., Goldstein, D.P., Fraer, C. and Reichardt, J.K.V. (1996) Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). Mol. Hum. Reprod., 2, 145-148.
5. Cramer, D.W., Muto, M.G., Reichardt, J.K.V. et al. (1994) Characteristics of women with a family history of ovarian cancer: I. Galactose consumption and metabolism. Cancer, 74, 1309-1317.
6. Cramer, D.W., Ravnikar, V.A., Craighill, M. et al. (1987) Müllerian aplasia associated with maternal deficiency of galactose-1-phosphate uridyl transferase. Fertil. Steril., 47, 930-934.
7. D'Hooghe, T.M., Bambra, C.S., Suleman, M.A. et al. (1994) Development of a model of retrograde menstruation in baboons (Papio anubis). Fertil. Steril., 59, 635-638.
8. Elsas, L.J., Dembure, P.P., Langley, S. et al. (1994) A common mutation associated with the Duarte galactosemia allele. Am. J. Hum. Genet., 54, 1030-1036.
9. Frisch, R.E. and Wyshak, G. (1992) Dysplastic nevi, cutaneous melanoma and gynecologic disorders. Int. J. Dermatol., 31, 331-335.
10. Jiraseks, J.E. (1976) Principles of reproductive embryology. In Simpson, J.L. (ed.). Disorders of Sexual Differentiations. Academic Press, New York.
11. Lee, J.E.S. and Ng, W.G. (1982) Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyl transferase. Clin. Chem. Acta, 124, 351-356.
12. Meigs, J.V. (1953) Endometriosis: etiologic role of marriage age and parity; conservative treatment. Obstet. Gynecol., 2, 46-53.
13. Olive, D.L. and Henderson, D.Y. (1987) Endometriosis and Müllerian anomalies. Obstet. Gynecol., 69, 412-415.
14. Reichardt, J.K.V. and Woo, S.L.C. (1991) Molecular basis of galactosemia mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyl transferase. Proc. Natl. Acad. Sci. USA, 88, 2633-2637.
15. Wilner, S. and Uden, A. (1982) A prospective prevalence study of scoliosis in Southern Sweden. Acta Orthop. Scand., 53, 233-237.