TY - JOUR
T1 - MECP2 duplication syndrome in a patient from Cameroon
AU - Tekendo-Ngongang, Cedrik
AU - Dahoun, Sophie
AU - Nguefack, Séraphin
AU - Moix, Isabelle
AU - Gimelli, Stefania
AU - Zambo, Huguette
AU - Morris, Michael A.
AU - Sloan-Béna, Frédérique
AU - Wonkam, Ambroise
N1 - Publisher Copyright:
© 2020 Wiley Periodicals, Inc.
PY - 2020/4/1
Y1 - 2020/4/1
N2 - 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.
AB - 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.
KW - Africa
KW - Cameroon
KW - MECP2 duplication
KW - Xq28 duplication
KW - array-CGH
UR - http://www.scopus.com/inward/record.url?scp=85079479357&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85079479357&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.61510
DO - 10.1002/ajmg.a.61510
M3 - Article
C2 - 32052928
AN - SCOPUS:85079479357
SN - 1552-4825
VL - 182
SP - 619
EP - 622
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -