| Institution: | 1. https://orcid.org/0000-0002-2709-4807;2. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;3. Cedrik Ngongang, MD, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Building 35, Bethesda, MD 20892.;4. Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland;5. Department of Obstetrics and Gynecology, Yaoundé Gynaeco‐Obstetric and Pediatric Hospital, Yaoundé, Cameroon;6. Department of Pediatrics, Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon;7. Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa |
| Abstract: | 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. |
