X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

American Journal of Medical Genetics. Part a
Marian A SpathHelger G Yntema

Abstract

Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome inactivation (XCI) determines the phenotypic severity of full mutation women, we reasoned that the development of POF in fragile X premutation carriers could be due to skewed XCI (XCI ratio >80:20). To determine inactivation ratios and activities of the premutations, inactivation patterns were assessed in peripheral blood samples from 101 fragile X premutation carriers (mean age 47.1 years, range 12-72) through analysis of the AR and FMR1 loci, respectively. In addition, AR inactivation patterns were assessed in peripheral blood samples from 25 women with idiopathic POF (mean age 31.7 years, range 19-48). We addressed the association between age and skewed XCI because older women are prone to XCI skewness. The median XCI ratios were 68% for premutation carriers with POF (N = 37), 67% for premutation carriers without POF (N = 64) and 61% for women with idiopathic POF (N = 25). The incidence of skewing was similar in all groups, that is, 7 of 37 (18.9%) in premutation carriers with POF, 11 of 64 (17.2%) in premutation carriers without POF, and 3 of 25 (12%) in women with ...Continue Reading

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Citations

Apr 4, 2012·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Gloria E HoffmanKaren Usdin
Oct 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christian De GeyterKarl Heinimann
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Aug 26, 2014·Journal of Neurodevelopmental Disorders·Stephanie L ShermanKaren Usdin
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Apr 30, 2017·Reproductive Biology and Endocrinology : RB&E·David H BaradNorbert Gleicher

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