Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome

Clinical Genetics
S TakahashiK Fujieda

Abstract

Mutations in the X-linked MECP2 gene cause Rett syndrome, a neurodevelopmental disorder that exclusively affects girls. Females with the MECP2 mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI). Here, we report a family with a girl with Rett syndrome in whom a novel missense mutation in the MECP2 gene was transmitted through the maternal germ line. The carrier mother was asymptomatic and presented non-random XCI in the peripheral blood cells, which resulted in the X chromosome harboring the mutant allele that was predominantly active. Thus, the presence of non-random XCI in the peripheral blood cells did not provide an explanation for the normal phenotype of the carrier mother. This result suggests that mechanisms other than XCI may contribute to the phenotypic heterogeneity associated with MECP2 mutations.

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Citations

Oct 31, 2009·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Lilach M Friedman, Karen B Avraham
Apr 29, 2010·Current Psychiatry Reports·Michael L Gonzales, Janine M LaSalle
Jul 28, 2009·European Journal of Medical Genetics·Albertina De Sario
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Jul 3, 2013·The Journal of Molecular Diagnostics : JMD·Hiart MaortuaMaría-Isabel Tejada
Jul 5, 2011·Journal of the Neurological Sciences·Eri TakeshitaYu-ichi Goto
Dec 10, 2019·Molecular Genetics & Genomic Medicine·Ryo TakeguchiMasayuki Itoh
Jan 17, 2020·Molecular Genetics & Genomic Medicine·Satoru TakahashiRyosuke Tanaka
Aug 6, 2019·Frontiers in Integrative Neuroscience·Victor FaundezDaniel Tarquinio

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