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PMID: 7562965 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Journal of medical genetics ·Vol. 32 ·No. 7 ·1995-07-00 ·Pages 531-6

Van Camp G, Van Thienen MN, Handig I, Van Roy B, Rao VS, Milunsky A, Read AP, Baldwin CT, Farrer LA, Bonduelle M

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.

MeSH Terms
Animals Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 13/ultrastructure Chromosomes, Human, Pair 3 DNA-Binding Proteins/genetics Female Gene Expression Regulation, Developmental Genes, Homeobox Genetic Heterogeneity Hirschsprung Disease/genetics Humans Infant, Newborn Lod Score Male Mice Mice, Mutant Strains Microphthalmia-Associated Transcription Factor Microsatellite Repeats Neural Crest/abnormalities PAX3 Transcription Factor Paired Box Transcription Factors Receptor, Endothelin B Receptors, Endothelin/genetics Species Specificity Transcription Factors Waardenburg Syndrome/classification,embryology,genetics
Chemicals
DNA-Binding Proteins MITF protein, human Microphthalmia-Associated Transcription Factor Mitf protein, mouse PAX3 Transcription Factor PAX3 protein, human Paired Box Transcription Factors Receptor, Endothelin B Receptors, Endothelin Transcription Factors Pax3 protein, mouse
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Van Camp G
Department of Medical Genetics, University of Antwerp, Belgium.
Van Thienen M N
Handig I
Van Roy B
Rao V S
Milunsky A
Read A P
Baldwin C T
Farrer L A
Bonduelle M
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.32.7.531
Published
1995-07-00
Pages
531-6
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1050545
Subset
IM
Grants
NIMHD NIH HHS · 263-MD-117512 · United States
NIDCD NIH HHS · DC01848 · United States
External Links
PubMed source DOI: 10.1136/jmg.32.7.531 PMC Full Text View journal details
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