Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.

ABSTRACT:

Background

Angelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile. Typically, AS results from absent maternal expression of UBE3A, but some individuals have imprinting defects in a portion of their cells. These individuals are mosaic for normal and defective UBE3A expression, resulting in mosaic AS (mAS) with a partial loss of gene expression.

Methods

This study aims to contrast the mAS phenotype to that of AS. Clinical characteristics of mAS were obtained from a parental survey of 22 mAS patients and from the Angelman Natural History study. These were contrasted with those of AS using historical data.

Results

Developmental delay was present in nearly

SUBMITTER: Carson RP 

PROVIDER: S-EPMC6732290 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature