¹Department of Medical Genetics, University of Helsinki, Finland

²Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden

³Cleft Center, University Hospital of Helsinki, Finland

⁴Finnish Genome Center, University of Helsinki, Finland

⁵Department of Orthodontics, Institution of Odontology, Karolinska Institute, Stockholm, Sweden

⁶Department of Reconstructive Plastic Surgery, Karolinska Hospital, Stockholm, Sweden

⁷Van Andel Research Institute, Grand Rapids, Michigan, USA

⁸Department of Medical Genetics, Väestöliitto, Family Federation, Helsinki, Finland

⁹Department of Medical Genetics, University of Turku, Finland

¹⁰Department of Pediatric Neurology, University of Turku, Finland

Correspondence to: Dr Juha Kere, Finnish Genome Center, PO BOX 63 (Haartmanink. 8), 00014 University of Helsinki, Finland. Tel: +358 9 19126538; fax: +358 9 19126789; E-mail: juha.kere@helsinki.fi

The Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or cleft palate. It is the most common cleft syndrome. VWS has shown remarkable genetic homogeneity in all populations, and so far, all families reported have been linked to 1q32-q41. A large Finnish pedigree with VWS was recently found to be unlinked to 1q32-q41. In order to map the disease locus in this family, a genome wide linkage scan was performed. A maximum lod score of 3.18 was obtained with the marker D1S2797, thus assigning the disease locus to chromosomal region 1p34. By analyses of meiotic recombinants an ~30 cM region of shared haplotypes was identified. The results confirm the heterogeneity of the VWS syndrome, and they place the second disease locus in 1p34. This finding has a special interest because the phenotype in VWS closely resembles the phenotype in non-syndromic forms of cleft lip and palate. European Journal of Human Genetics (2001) 9, 747-752.

Van der Woude syndrome; cleft lip and palate; cleft palate; lip pits; linkage analysis; chromosome 1