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
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.
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.
Clin Case Rep. 2014 Dec;2(6):250-3. doi: 10.1002/ccr3.101. Epub 2014 Sep 15.
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.
我们报告了三名患有刚果腘翼状胬肉综合征（PPS）的相关患者，他们仅在 toenail 上方的皮肤褶皱方面表现一致。突变分析显示，这三名受影响的个体在 Exon 4（NM_006147.2:c.250C>T；p.Arg84Cys）中携带杂合错义突变。这是来自中非的首个经分子确认的 PPS 家族。
