title: Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
abstract: Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not all families. An association of WS symptoms with Hirschsprung disease (HSCR) has been reported in many families. We report here a patient with characteristics of WS2 and a de novo interstitial deletion of chromosome 13q. We also describe a family with two sibs who have both WS2 and HSCR. In this family, all possible genes for WS and HSCR, but not chromosome 13q, could be excluded. As an association between chromosome 13q and HSCR/WS has been reported previously, these data suggest that there is a gene on chromosome 13q that is responsible for WS or HSCR or both.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: M N
authors.initials: MN
authors.lastname: Van Thienen
authors.forename: I
authors.initials: I
authors.lastname: Handig
authors.forename: B
authors.initials: B
authors.lastname: Van Roy
authors.forename: V S
authors.initials: VS
authors.lastname: Rao
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: A P
authors.initials: AP
authors.lastname: Read
authors.forename: C T
authors.initials: CT
authors.lastname: Baldwin
authors.forename: L A
authors.initials: LA
authors.lastname: Farrer
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
mesh_terms: D000818:Animals; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D018740:Genetic Heterogeneity; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D051739:Microphthalmia-Associated Transcription Factor; D018895:Microsatellite Repeats; D009432:Neural Crest / Q000002:abnormalities*; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*; D013045:Species Specificity; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000145:classification / Q000196:embryology / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; C497235:Mitf protein, mouse; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin; D014157:Transcription Factors; C068686:Pax3 protein, mouse