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01.12.2017 | Research article | Ausgabe 1/2017 Open Access

BMC Medical Genetics 1/2017

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

Zeitschrift:
BMC Medical Genetics > Ausgabe 1/2017
Autoren:
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s12881-017-0394-7) contains supplementary material, which is available to authorized users.

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 hypotonia, recurrent infections, epilepsy, choreiform movements such as hand-wringing movement, and moderate increased spasticity with the lower limbs. The X-inactivation test showed a complete skewed X inactivation pattern of mother. In this reason, the mother had the same loci duplication but showed significantly little neurological manifestation compared to the two sons.

Conclusions

MECP2/IRAK1 duplication at Xq28 is inherited as an X-linked recessive trait and male-specific disorder associated with severe intellectual disability. We tried to analyze the information of the relationship between neuropsychiatric phenotype and the extent of duplication at Xq28 by comparing with previous reports.
Zusatzmaterial
Additional file 1: Figure S1. A pedigree of the family and the results of MLPA analysis. (TIF 626 kb)
12881_2017_394_MOESM1_ESM.tif
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