<scp> MECP2 </scp> duplication syndrome in a patient from Cameroon

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. African patients with Xq28 duplication involving MECP2 have scarcely been reported. Here, we describe a sub-Saharan African male patient from Cameroon, with MDS caused by an inherited 610kb microduplication of Xq28 encompassing the genes MECP2, IRAK1, L1CAM and SLC6A8. This report supplements public data on MDS and contributes by highlighting the phenotype of this condition in affected individuals of African descent.