Wong F K, Karsten A, Larson O, Huggare J, Hagberg C, Larsson C, Teh B T, Linder-Aronson S
Department of Orthodontics, Faculty of Odontology, Karolinska Institute, Huddinge, Sweden.
Acta Odontol Scand. 1999 Apr;57(2):72-6. doi: 10.1080/000163599428931.
Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/or cleft palate. It has been reported as the most common form of syndromic orofacial clefting with very high penetrance and varied expressivity. The disease locus for VWS has been mapped to chomosome 1q32, but the gene is yet to be cloned. Here we report a total of 11 Swedish VWS patients: 9 familial cases from two families and two isolated cases. Clinical examination of these patients showed phenotypic variability, even between patients from the same family. Genetic studies were performed using four microsatellite markers from chromosome 1q32. Constitutional deletion in this region was not demonstrated in any of the familial or isolated cases. However, in the two VWS families, linkage analysis using these markers showed positive LOD (logarithm of the odds) scores ranging from 2.56 to 2.88 to all individual markers. The highest LOD score of 3.75 was obtained with the combined haplotypes of D1S491 and D1S205, thus confirming linkage of VWS in these two families to 1q32. We conclude that there is varied expressivity but no evidence of genetic heterogeneity in VWS.
范德伍德综合征（VWS）是一种常染色体显性遗传的颅面疾病，其特征为下唇凹陷、牙齿发育不全以及唇裂和/或腭裂。据报道，它是综合征性口腔颌面部裂隙最常见的形式，具有很高的外显率和多样的表现度。VWS的疾病基因座已被定位到1号染色体的1q32，但该基因尚未被克隆。在此，我们报告了总共11例瑞典VWS患者：来自两个家族的9例家族性病例和2例散发病例。对这些患者的临床检查显示出表型的变异性，即使是来自同一家族的患者之间也是如此。使用来自1号染色体1q32的四个微卫星标记进行了基因研究。在任何家族性或散发病例中均未发现该区域的染色体缺失。然而，在这两个VWS家族中，使用这些标记进行的连锁分析显示，所有单个标记的LOD（优势对数）得分在2.56至2.88之间。D1S491和D1S205的联合单倍型获得了最高LOD得分3.75，从而证实了这两个家族中的VWS与1q32连锁。我们得出结论，VWS存在多样的表现度，但没有遗传异质性的证据。
