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Project

Rett syndrome and MECP2 Mutations: Phenotype-Genotype Correlations

Center:

AL-Civitan International Research Center, UCEDD/LEND

Fiscal Year:

2017

Contact Information:

Alan Percy
[email protected]
205-996-4927

Project Description:

Thepurpose of the project is to examine variations in clinical features of individuals with mutations in the methyl-CpG-binding protein 2 gene(MECP2) and to compare the X-chromosome inactivation pattern (XCI) in those females with mutations in MECP2. The clinical features of individuals with Rhett syndrome may vary and mutations in MECP2 may occur in individuals who do not have Rhett syndrome. This study will attempt to clarify this apparent contradiction.

Keyword(s):

Rhett syndrome, MECP2, mutations, phenotype-genotype correlations

Core Function(s):

Performing Research or Evaluation

Area of Emphasis

Health-Related Activities, Other - Leadership

Target Audience:

Professionals and Para-Professionals, Family Members/Caregivers, Children/Adolescents with Disabilities/SHCN

Unserved or Under-served Populations:

Racial or Ethnic Minorities, Disadvantaged Circumstances, Limited English

Primary Target Audience Geographic Descriptor:

National