The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders

被引：24
作者：
Brand, Boudewien A. [1 ]
Blesson, Alyssa E. [1 ]
Smith-Hicks, Constance L. [2 ,3 ]
机构：
[1] Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA
[2] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA
[3] Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21287 USA
来源：
BRAIN SCIENCES | 2021年 / 11卷 / 07期
关键词：
X-chromosome inactivation; MECP2; FMR1; Rett syndrome; fragile X syndrome; FXTAS; POI; neurodevelopmental disorders; PREMATURE OVARIAN FAILURE; SEVERE MENTAL-RETARDATION; FORSSMAN-LEHMANN-SYNDROME; DE-NOVO MUTATIONS; RETT-SYNDROME; INTELLECTUAL DISABILITY; MECP2; MUTATION; DUPLICATION; FAMILY; GENE;
D O I：
10.3390/brainsci11070904
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Nearly 20% of genes located on the X chromosome are associated with neurodevelopmental disorders (NDD) due to their expression and role in brain functioning. Given their location, several of these genes are either subject to or can escape X-chromosome inactivation (XCI). The degree to which genes are subject to XCI can influence the NDD phenotype between males and females. We provide a general review of X-linked NDD genes in the context of XCI and detailed discussion of the sex-based differences related to MECP2 and FMR1, two common X-linked causes of NDD that are subject to XCI. Understanding the effects of XCI on phenotypic expression of NDD genes may guide the development of stratification biomarkers in X-linked disorders.
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页数：14
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