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Article

MECP2 duplication syndrome in a patient from Cameroon.

American journal of medical genetics. Part A - 1 Apr 2020

Tekendo-Ngongang Cedrik, Dahoun Sophie, Nguefack Séraphin, Moix Isabelle, Gimelli Stefania, Zambo Huguette, Morris Michael A, Sloan-Béna Frédérique, Wonkam Ambroise

Abstract excerpt

MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor-to-absent speech, progressive spasticity, seizures, and recurrent infections. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32052928
DOI: 10.1002/ajmg.a.61510
PMCID: PMC7450984

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