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Semin Reprod Med 2000; 18(1): 059-066
DOI: 10.1055/s-2000-13476
Copyright © 2000 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Premature Ovarian Failure and the FMR1 Gene

Anna Murray
  • University of Southampton, Human Genetics Research Division, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom
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Publication History

Publication Date:
31 December 2000 (online)

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ABSTRACT

FMR1 is an X-linked gene that codes for an RNA binding protein. Expansion of a triplet repeat within exon 1 of the gene causes the fragile X syndrome, which is characterized by mental retardation and various physical anomalies. The triplet repeat in FMR1 can expand to varying degrees. Only the very large expansions in which there is concomitant methylation of the gene cause the fragile X syndrome. Expansions of between 50 and 200 repeats are premutations. Although premutations were originally perceived to be without phenotypic effect, there is now substantial evidence that female carriers of premutations are at increased risk of having early menopause. The FMR1 premutation is also associated with a significant number of cases ascertained because of idiopathic premature ovarian failure, particularly when ovarian failure is a familial trait. The molecular mechanism to explain the association between ovarian failure and premutations is unknown.

KEYWORD

premature ovarian failure - premutation

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