Advance in research on MECP2 corrected duplication syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 426-429, 2015.
Article
in Zh
| WPRIM
| ID: wpr-239453
Responsible library:
WPRO
ABSTRACT
Methyl-CpG-binding protein 2 gene (MECP2; OMIM 300005) is located at chromosome Xq28. Mutations of the gene including point mutation, duplication and deletion can lead to severe neurodevelopmental disorders. The disease caused by duplication of the entire MECP2 gene, named as MECP2 duplication syndrome, is mostly seen in males. The clinical manifestation of this syndrome include mental retardation, hypotonia, poor speech development, recurrent infection, progressive spasticity, epilepsy, autism or autistic features with or without midface hypoplasia. Most patients have inherited the duplication from their unaffected mothers, with only a few cases having de novo mutation. Females with duplicated MECP2 gene are typically asymptomatic because of a skewed X chromosome inactivation (XCI) pattern. Proposed mechanisms of this genomic rearrangement include fork stalling and template switching (FoSTeS) and microhomology mediated break-induced replication (MMBIR). Since no effective treatment is available for this disease, proper genetic counseling and prenatal diagnosis for the high risk families are crucial.
Full text:
1
Database:
WPRIM
Main subject:
Gene Duplication
/
Mental Retardation, X-Linked
/
Methyl-CpG-Binding Protein 2
/
Genetics
/
Metabolism
Limits:
Animals
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Document type:
Article