A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.

ABSTRACT:

Background

Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome.

Methods

We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization.

Results

The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283). MECP2 and IRAK1 were associated with the neurological phenotypes in dose-sensitive and dose-critical manner. The brothers demonstrated severe intellectual disability, autistic features, generalized hypotoni

SUBMITTER: Yon DK 

PROVIDER: S-EPMC5356410 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature