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A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.
Eur J Med Genet. 2014 Mar; 57(4):169-73.EJ

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 region 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.

Authors+Show Affiliations

Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box, Kin I, Kinshasa, The Democratic Republic of the Congo.Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box, Kin I, Kinshasa, The Democratic Republic of the Congo.Department of Surgery, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo.Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box, Kin I, Kinshasa, The Democratic Republic of the Congo.Department of Medical Imaging, Provincial General Hospital of Kinshasa, P.O. Box, Kin I, Kinshasa, The Democratic Republic of the Congo.Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium.Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo.Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, The Democratic Republic of the Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box, Kin I, Kinshasa, The Democratic Republic of the Congo.Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium. Electronic address: koenraad.devriendt@uzleuven.be.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24486773

Citation

Lumaka, Aimé, et al. "A Novel Heterozygous Mutation of Three Consecutive Nucleotides Causing Apert Syndrome in a Congolese Family." European Journal of Medical Genetics, vol. 57, no. 4, 2014, pp. 169-73.
Lumaka A, Mubungu G, Mukaba P, et al. A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. Eur J Med Genet. 2014;57(4):169-73.
Lumaka, A., Mubungu, G., Mukaba, P., Mutantu, P., Luyeye, G., Corveleyn, A., Tady, B. P., Lukusa Tshilobo, P., & Devriendt, K. (2014). A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. European Journal of Medical Genetics, 57(4), 169-73. https://doi.org/10.1016/j.ejmg.2014.01.004
Lumaka A, et al. A Novel Heterozygous Mutation of Three Consecutive Nucleotides Causing Apert Syndrome in a Congolese Family. Eur J Med Genet. 2014;57(4):169-73. PubMed PMID: 24486773.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family. AU - Lumaka,Aimé, AU - Mubungu,Gerrye, AU - Mukaba,Papino, AU - Mutantu,Pierre, AU - Luyeye,Gertrude, AU - Corveleyn,Anniek, AU - Tady,Bruno-Paul, AU - Lukusa Tshilobo,Prosper, AU - Devriendt,Koenraad, Y1 - 2014/01/28/ PY - 2013/09/19/received PY - 2014/01/15/accepted PY - 2014/2/4/entrez PY - 2014/2/4/pubmed PY - 2014/12/17/medline KW - Apert syndrome KW - Central Africa KW - Craniosynostosis KW - Syndactyly KW - Tandem base substitution SP - 169 EP - 73 JF - European journal of medical genetics JO - Eur J Med Genet VL - 57 IS - 4 N2 - 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 region 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. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/24486773/A_novel_heterozygous_mutation_of_three_consecutive_nucleotides_causing_Apert_syndrome_in_a_Congolese_family_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(14)00022-6 DB - PRIME DP - Unbound Medicine ER -