Article
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing.
Human mutation - 1 Nov 2021
Sun Yixi, Yang Yali, Luo Yuqin, Chen Min, Wang Liya, Huang Yingzhi, Yang Yanmei, Dong Minyue
Abstract excerpt
Xq28 duplication syndrome (MIM# 300815) is a severe neurodevelopmental disorder in males due to MeCP2 overexpression. Most females with MECP2 duplication are asymptomatic carriers, but there are phenotypic heterogeneities. Skewed X-chromosome inactivation (XCI) can protect females from exhibiting clinical phenotypes. Herein we reported two asymptomatic females (mother and grandmother) with interstitial Xq28...
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