MECP2 duplication syndrome in a patient from Cameroon

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

Research output: Contribution to journalArticlepeer-review


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 condition is 100% penetrant in males, with observed variability in phenotypic expression within and between families. Features of MDS in individuals of African descent are not well known. Here, we describe a male patient from Cameroon, with MDS caused by an inherited 610 kb microduplication of Xq28 encompassing the genes MECP2, IRAK1, L1CAM, and SLC6A8. This report supplements the public data on MDS and contributes by highlighting the phenotype of this condition in affected individuals of African descent.

Original languageEnglish (US)
Pages (from-to)619-622
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 1 2020
Externally publishedYes


  • Africa
  • Cameroon
  • MECP2 duplication
  • Xq28 duplication
  • array-CGH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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