Article
The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.
Genes - 7 Apr 2026
Dukuze Norbert, Hitayezu Janvier, Uyisenga Jeanne Primitive, Uwibambe Esther, Caberg Jean Hubert, Dideberg Vinciane, Bours Vincent, Alagbonsi Abdullateef Isiaka, Mutesa Leon, Uwineza Annette
Abstract excerpt
Background: Kleefstra syndrome (KS) is a rare neurodevelopmental disorder caused by haploinsufficiency of EHMT1; it is characterized by global developmental delay, intellectual disability, hypotonia, distinctive facial features, and variable congenital anomalies. Autistic features, behavioral abnormalities and severe speech impairment are frequently reported. However, molecularly confirmed cases of KS from Africa...
Topics
- Humans
- Rwanda
- Intellectual Disability
- Infant
- Histone-Lysine N-Methyltransferase
- Developmental Disabilities
- Heart Defects, Congenital
- Male
- Craniofacial Abnormalities
- Chromosome Deletion
- Exome Sequencing
- Female
- Chromosomes, Human, Pair 9