Title: A Novel Heterozygous Mutation Of Three Consecutive Nucleotides Causing Apert Syndrome In A Congolese Family
Authors: Lumaka Zola, Aimé ×
Mubungu, Gerrye
Mukaba, Papino
Mutantu, Pierre
Luyeye, Gertrude
Corveleyn, Anniek
Tady, Bruno-Paul
Lukusa-Tshilobo, Prosper
Devriendt, Koenraad #
Issue Date: Mar-2014
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:57 issue:4 pages:169-173
Article number: S1769-7212(14)00022-6
Abstract: Apert syndrome (OMIM 101200) is a rare genetic condition characterized by craniosynostosis and syndactyly of hands and feet with clinical variability. Two single nucleotides mutations in the linker between the immunoglobulin-like domains II and IIIa of the ectodomainin the Fibroblast Growth Factor Receptor 2 gene (FGFR2, OMIM 176943) are responsible of the vast majority of cases: c.755C>G; p.Ser252Trp (65%) and c.758C>G; p.Pro253Arg (34%. Three exceptional cases carry multiple substitutions of adjacent nucleotides in the linker region. Here we present a Congolese male patient and his mother, both affected with Apert syndrome of variable severity, carrying a previously undescribed heterozygous mutation of three consecutive nucleotides (c.756_758delGCCinsCTT) in the IgII-IgIIIa linker region. This is the fourth live-born patient to carry a multiple nucleotide substitution in the linker region and is the second alternative amino acid substitutions of the Pro253. Remarkably, this novel mutation was detected in the first Central African patient ever to be tested molecularly for the Apert syndrome. To discriminate between a hitherto unreported mutation and an ethnic specific polymorphism, we tested 105 Congolese controls, and no variation was detected.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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