Journal article
Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome
Human molecular genetics, Vol.3(4), pp.575-578
04/01/1994
DOI: 10.1093/hmg/3.4.575
PMID: 8069301
Abstract
Van der Woude syndrome (VWS) Is an autosomal dominant craniofacial disorder representing the most frequent form of syndromic cleft lip and palate. Other characteristic features are pits of the lower lip and hypodontia. The gene shows high penetrance and seems to play an Important role in orofacial development determined by the tissues involved and their formation during different periods of craniofacial development. Although most individuals affected with VWS show Mendelian inheritance, one patient with a macroscopic deletion and multiple malformations Including two primary features of VWS has been described In the literature (4), indicating hemizygosity Is compatible with the VWS phenotype. We report here the allelic loss of a stable and highly polymorphic microsatelllte (D1S205) from region 1932–41 in one family with VWS. Classical manifestations of the syndrome superimposed on developmental delay In all affected members of the family, the absence of cytogenetic abnormalities, the reproduclbllity of the null allele with a new set of primers and close linkage of this marker in a total of 15 VWS families provide strong evidence that the first mlcrodeletion involving the gene for VWS has been identified. Assuming 1 Mb of DNA per cM of genetic distance, the upper bound of the deletion size would amount to 4 Mb.
Details
- Title: Subtitle
- Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome
- Creators
- A. Sander - Krankenhaus NordwestR Schmelzle - Clinic of Oral - Maxillofacial Surgery, Nordwestdeutsche KieferWmik, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany, IA 52242, USAJ. Murray - University of Iowa Hospitals and Clinics
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.3(4), pp.575-578
- DOI
- 10.1093/hmg/3.4.575
- PMID
- 8069301
- NLM abbreviation
- Hum Mol Genet
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Publisher
- Oxford University Press
- Number of pages
- 4
- Language
- English
- Date published
- 04/01/1994
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9985035881102771
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