Article
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
American journal of medical genetics. Part A - 1 Jul 2013
Chapleau Christopher A, Lane Jane, Kirwin Susan M, Schanen Carolyn, Vinette Kathy M B, Stubbolo Danielle, MacLeod Patrick, Glaze Daniel G, Motil Kathleen J, Neul Jeffrey L, Skinner Steven A, Kaufmann Walter E, Percy Alan K
Abstract excerpt
The objective of our study was to characterize the influence of multiple mutations in the MECP2 gene in a cohort of individuals with Rett syndrome. Further analysis demonstrated that nearly all resulted from de novo in cis mutations, where the disease severity was indistinguishable from single mutations. Our methods involved enrolling participants in the RTT Natural History Study (NHS). After providing informed...
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