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MECP2 duplication syndrome in a patient from Cameroon
Author(s) -
TekendoNgongang Cedrik,
Dahoun Sophie,
Nguefack Séraphin,
Moix Isabelle,
Gimelli Stefania,
Zambo Huguette,
Morris Michael A.,
SloanBéna Frédérique,
Wonkam Ambroise
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61510
Subject(s) - mecp2 , hypotonia , xq28 , gene duplication , phenotype , foxp2 , genetics , intellectual disability , gene , spasticity , biology , medicine , physical therapy , transcription factor
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.