MECP2 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. 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.

Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon.

BACKGROUND: Initiation of Prenatal Genetic Diagnosis (PND) has laid the foundation of the first medical genetic service in Cameroon. METHOD: Cross-sectional descriptive study, illustrating some aspects of the genetic service using a small 24-months PND experience. RESULTS: The service began with a medical geneticist who had to follow-up the building and equipments supplies of the diagnosis laboratory; and to personally perform genetic consultations, molecular experiments and post-results counseling. PND was indicated for sickle cell disease (SCD) in 33 cases (55%) and chromosomal anomalies in 27 cases (45%). With international collaboration, DNA analysis revealed 6 SCD-affected foetuses (20.7%); QF-PCR (N=25) and full karyotype (N=8) analysis revealed cases of trisomy 21 and trisomy 18. Following PND success, national effort granted more human and material resources to improve the service. The preliminary experience was made possible by three factors: 1) the availability of a trained Cameroonian medical geneticist 2) the availability of obstetricians trained in fetal medicine and 3) advocacy initiatives at national and international levels, which have proven invaluable for advice, training, sourcing of materials, and back-up reference diagnostic laboratory. CONCLUSION: The practice of medical genetics, involving prenatal genetic diagnosis of sickle cell disease and chromosomal anomalies, is possible in Cameroon (sub-Saharan Africa).