Microdeletions in FMR2 may be a significant cause of premature ovarian failure. Issue 10 (1st October 1999)

• Record Type: Journal Article
• Authors: Murray, Anna; Webb, James; Dennis, Nick; Conway, Gerard; Morton, Newton
• Is Part Of: Journal of medical genetics. Volume 36:Issue 10(1999)
• Page Start: 767
• Page End: 770
• Publication Date: 1999-10-01
• Subjects: FMR2 -- deletion -- premature ovarian failure; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.36.10.767
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Genetic causes of premature ovarian failure (POF) include X chromosome deletions and fragile X (FRAXA) premutations. While screening a cohort of women with POF for FRAXA premutations, a more distal trinucleotide repeat, FRAXE, was also tested. We found an unexpected excess of FRAXE alleles with apparently fewer than 11 repeats in the POF group. However, sequence analysis of these alleles showed that the excess was caused by three females who carry cryptic deletions in FMR2, the gene associated with FRAXE. We propose that microdeletions within FMR2 may be a significant cause of premature ovarian failure, being found in 1.5% of women with the condition, and in only 0.04% of the general female population. The deletions may affect transcription of either FMR2 or an adjacent gene.