Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability

KEY CLINICAL MESSAGE: 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....

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Autores principales: Mubungu, Gerrye, Lumaka, Aimé, Matondo, Rosette, Mbayabo, Gloire, Tuka, Deborah, Kayembe, Claudarche, Mulowhe, Didier, Molua, Antoine, Tady, Bruno-Paul, Nkidiaka, Emmanuel, Bunga, Paulo, Lukusa Tshilobo, Prosper, Devriendt, Koenraad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270704/
https://www.ncbi.nlm.nih.gov/pubmed/25548624
http://dx.doi.org/10.1002/ccr3.101
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author Mubungu, Gerrye
Lumaka, Aimé
Matondo, Rosette
Mbayabo, Gloire
Tuka, Deborah
Kayembe, Claudarche
Mulowhe, Didier
Molua, Antoine
Tady, Bruno-Paul
Nkidiaka, Emmanuel
Bunga, Paulo
Lukusa Tshilobo, Prosper
Devriendt, Koenraad
author_facet Mubungu, Gerrye
Lumaka, Aimé
Matondo, Rosette
Mbayabo, Gloire
Tuka, Deborah
Kayembe, Claudarche
Mulowhe, Didier
Molua, Antoine
Tady, Bruno-Paul
Nkidiaka, Emmanuel
Bunga, Paulo
Lukusa Tshilobo, Prosper
Devriendt, Koenraad
author_sort Mubungu, Gerrye
collection PubMed
description KEY CLINICAL MESSAGE: 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.
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spelling pubmed-42707042014-12-29 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability Mubungu, Gerrye Lumaka, Aimé Matondo, Rosette Mbayabo, Gloire Tuka, Deborah Kayembe, Claudarche Mulowhe, Didier Molua, Antoine Tady, Bruno-Paul Nkidiaka, Emmanuel Bunga, Paulo Lukusa Tshilobo, Prosper Devriendt, Koenraad Clin Case Rep Case Reports KEY CLINICAL MESSAGE: 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. Blackwell Publishing Ltd 2014-12 2014-09-15 /pmc/articles/PMC4270704/ /pubmed/25548624 http://dx.doi.org/10.1002/ccr3.101 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Mubungu, Gerrye
Lumaka, Aimé
Matondo, Rosette
Mbayabo, Gloire
Tuka, Deborah
Kayembe, Claudarche
Mulowhe, Didier
Molua, Antoine
Tady, Bruno-Paul
Nkidiaka, Emmanuel
Bunga, Paulo
Lukusa Tshilobo, Prosper
Devriendt, Koenraad
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
title Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
title_full Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
title_fullStr Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
title_full_unstemmed Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
title_short Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
title_sort skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a congolese family with large intrafamilial variability
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270704/
https://www.ncbi.nlm.nih.gov/pubmed/25548624
http://dx.doi.org/10.1002/ccr3.101
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