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Semin Reprod Med 2000; 18(1): 097-104
DOI: 10.1055/s-2000-13480
Copyright © 2000 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

X Chromosome Defects as an Etiology of Recurrent Spontaneous Abortion

Mark C. Lanasa1,3 , W. Allen Hogge2,3
  • 1Biochemistry and Molecular Genetics, University of Pittsburgh School of Medicine
  • 2Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine
  • 3Magee-Women's Research Institute, Magee-Women's Hospital, Pittsburgh, Pennsylvania
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Publication History

Publication Date:
31 December 2000 (online)

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ABSTRACT

Recurrent spontaneous abortion is a significant problem in women's health, yet it remains a poorly understood phenomenon. Many cases of recurrent spontaneous abortion defy diagnosis, and we predict that a subset of these unexplained cases are caused by previously unknown, recessively inherited genetic causes. Here, we provide background on known genetic factors that contribute to spontaneous abortion and describe a novel X chromosome-based genetic mechanism that may be an important cause of recurrent spontaneous abortion. Recessively inherited defects on the human X chromosome would cause no symptoms in carrier females but would be lethal in utero to male conceptions that receive the defective X. Through investigation of the basic biology of the X chromosome, we propose that the female carriers of such traits can be identified through the molecular finding of skewed X chromosome inactivation. Furthermore, we have observed an association between skewed X chromosome inactivation and recurrent pregnancy loss, supporting the hypothesis that X chromosome defects may be an important, previously unknown cause of recurrent pregnancy loss.

KEYWORD

spontaneous abortion - X-linked recessive lethal inheritance - X chromosome inactivation

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