Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
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ABSTRACT:
SUBMITTER: Mubungu G
PROVIDER: S-EPMC4270704 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
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Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
Mubungu Gerrye G Lumaka Aimé A Matondo Rosette R Mbayabo Gloire G Tuka Deborah D Kayembe Claudarche C Mulowhe Didier D Molua Antoine A Tady Bruno-Paul BP Nkidiaka Emmanuel E Bunga Paulo P Lukusa Tshilobo Prosper P Devriendt Koenraad K
Clinical case reports 20140915 6
<h4>Key clinical message</h4>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. ...[more]
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