MECP2 duplication syndrome in a patient from Cameroon. Issue 4 (13th February 2020)

• Record Type: Journal Article
• Authors: Tekendo‐Ngongang, Cedrik; Dahoun, Sophie; Nguefack, Séraphin; Moix, Isabelle; Gimelli, Stefania; Zambo, Huguette; Morris, Michael A.; Sloan‐Béna, Frédérique; Wonkam, Ambroise
• Is Part Of: American journal of medical genetics. Volume 182:Issue 4(2020)
• Page Start: 619
• Page End: 622
• Publication Date: 2020-02-13
• Subjects: Africa -- array‐CGH -- Cameroon -- MECP2 duplication -- Xq28 duplication; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61510
• Languages: English
• ISSNs: 1552-4825

Abstract

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.