Novel And De Novo Mutations Of The IRF6 Gene Detected In Patients With Van Der Woude Or Popliteal Pterygium Syndrome
Myriam Peyrard-Janvid (1), Marie Pegelow (2), Hannele Koillinen (3), Catharina Larsson (4), Ingegerd Fransson (1), Jorma Rautio (5), Jyri Hukki (5), Ola Larson (6), Agneta L-A Karsten (2) and Juha Kere (1,7)
(1) Department of Biosciences at NOVUM, Karolinska Institutet, Huddinge, Sweden
(2) Department of Orthodontics, Section for Jaw Orthopedics, Karolinska Institutet, Huddinge, Sweden
(3) Department of Medical Genetics, University of Turku, Turku, Finland
(4) Department of Molecular Medicine, Karolinska University Hospital-Solna, CMM, Sweden
(5) Cleft Center, University Hospital of Helsinki, Helsinki, Finland
(6) Department of Reconstructive Plastic Surgery, Karolinska University Hospital-Solna, Sweden
(7) Department of Medical Genetics, Biomedicum, University of Helsinki, Helsinki, Finland
The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. In a recently published article in the European Journal of Human Genetics (Vol.13, pp. 1261–1267), the authors have studied altogether 17 kindreds from Sweden, Finland, Norway, Thailand and Singapore, and report here 10 mutations, six of them previously unseen. Their findings demonstrate that several distinct mutations occur in the Swedish population, and confirm the general notion of a broad spectrum of IRF6 mutations underlying the VWS/PPS phenotypes.
Dr M Peyrard-Janvid, Department of Biosciences at NOVUM, Karolinska Institutet, SE-141 57 Huddinge, Sweden.
Abstract available online.
(C) European Journal of Human Genetics.
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