MECP2 duplication syndrome in a patient from Cameroon.

07:00 EST 13th February 2020 | BioPortfolio

Summary of "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.


Journal Details

This article was published in the following journal.

Name: American journal of medical genetics. Part A
ISSN: 1552-4833


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Medical and Biotech [MESH] Definitions

Processes occurring in various organisms by which new genes arise, i.e. the duplication of a single gene. In contiguous gene duplication, the duplicated sequence coexists within the boundaries set by the start and stop signals for protein synthesis of the original, resulting in a larger transcription product and protein at the expense of the preexisting protein. In discrete gene duplication, the duplicated sequence is outside the start and stop signals, resulting in two independent genes (GENES, DUPLICATE) and gene products. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

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A republic in western Africa, south of NIGER between BENIN and CAMEROON. Its capital is Abuja.

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