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

Autor: Brand BA; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Blesson AE; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Smith-Hicks CL; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Jazyk: angličtina
Zdroj: Brain sciences [Brain Sci] 2021 Jul 09; Vol. 11 (7). Date of Electronic Publication: 2021 Jul 09.
DOI: 10.3390/brainsci11070904
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje