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

摘要: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results the Rett syndrome, whereas gain-of-function are associated with MECP2 duplication syndrome. We did research on a family two brothers showing Xq28 syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. The duplicated region had several genes including interleukin-1 receptor kinase 1 (IRAK1; *300283). IRAK1 were neurological phenotypes dose-sensitive dose-critical manner. demonstrated severe intellectual disability, autistic features, generalized hypotonia, recurrent infections, epilepsy, choreiform movements hand-wringing movement, moderate increased spasticity lower limbs. X-inactivation test showed complete skewed X inactivation pattern of mother. In this reason, mother same loci but significantly little manifestation compared to sons. MECP2/IRAK1 at is inherited an X-linked recessive trait male-specific disorder disability. tried analyze information relationship between neuropsychiatric phenotype extent by comparing previous reports.