title: Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
abstract: We report on three related Congolese popliteal pterygium syndrome (PPS) patients concordant only for the skinfold over the toenail. Mutation analysis revealed that the three affected individuals carried a heterozygous missense mutation in the Exon 4, NM_006147.2:c.250C>T; p.Arg84Cys. This is the first molecularly confirmed PPS family from central Africa.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Institut National de Recherche Biomédicale Democratic Republic of the Congo.
authors.forename: Gerrye
authors.initials: G
authors.lastname: Mubungu
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Institut National de Recherche Biomédicale Democratic Republic of the Congo ; Center for Human Genetics, Catholic University of Leuven Belgium.
authors.forename: Aimé
authors.initials: A
authors.lastname: Lumaka
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Rosette
authors.initials: R
authors.lastname: Matondo
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Gloire
authors.initials: G
authors.lastname: Mbayabo
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Deborah
authors.initials: D
authors.lastname: Tuka
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Claudarche
authors.initials: C
authors.lastname: Kayembe
authors.affiliation: Department of Medical Imaging, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Didier
authors.initials: D
authors.lastname: Mulowhe
authors.affiliation: Department of Medical Imaging, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Antoine
authors.initials: A
authors.lastname: Molua
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Bruno-Paul
authors.initials: BP
authors.lastname: Tady
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Nkidiaka
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo.
authors.forename: Paulo
authors.initials: P
authors.lastname: Bunga
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Institut National de Recherche Biomédicale Democratic Republic of the Congo ; Center for Human Genetics, Catholic University of Leuven Belgium.
authors.forename: Prosper
authors.initials: P
authors.lastname: Lukusa Tshilobo
authors.affiliation: Center for Human Genetics, Catholic University of Leuven Belgium.
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
keywords: Central Africa; oligodactyly; popliteal pterygium syndrome; pyramidal skinfold; syngnathia