{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T00:11:29Z","timestamp":1771632689230,"version":"3.50.1"},"reference-count":47,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.32.7.531","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"531-536","source":"Crossref","is-referenced-by-count":38,"title":["Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q."],"prefix":"10.1136","volume":"32","author":[{"given":"G","family":"Van Camp","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M N","family":"Van Thienen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Handig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Van Roy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V S","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A P","family":"Read","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C T","family":"Baldwin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L A","family":"Farrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Bonduelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,7,1]]},"reference":[{"key":"ref_1","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair q32.3,\"4 and 13q32.3-q33.2.42 None of these patients was reported to have symptoms ofWS, although one did have heterochromia irides.43 Other patients with overlapping 13q deletions and with congenital deafness. Am J7 Hum Genet 1951; 3","author":"Waardenburg, P.J.","unstructured":"Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair q32.3,\"4 and 13q32.3-q33.2.42 None of these patients was reported to have symptoms ofWS, although one did have heterochromia irides.43 Other patients with overlapping 13q deletions and with congenital deafness. Am J7 Hum Genet 1951;3: 195-253."},{"key":"ref_2","first-page":"87","article-title":"Genetic heterogeneity in the Waardenburg syndrome","volume":"7","author":"Arias, S.","year":"1971","unstructured":"Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 1971;7:87-101.","journal-title":"Birth Defects"},{"key":"ref_3","first-page":"1017","article-title":"Read A. Assignment of the locus for Waardenburg syndrome type I with the presence on 1 3q of a WS\/HSCR gene. It is possible that HSCR in these cases is a to human chromosome 2q37 and possible homology to the splotch mouse","volume":"46","author":"Foy, C.; Newton, V.; Wellesley, D.; Harris, R.","year":"1990","unstructured":"Foy C, Newton V, Wellesley D, Harris R, Read A. Assignment of the locus for Waardenburg syndrome type I with the presence on 1 3q of a WS\/HSCR gene. It is possible that HSCR in these cases is a to human chromosome 2q37 and possible homology to the splotch mouse. Am JfHum Genet 1990;46:1017-23.","journal-title":"Am JfHum Genet"},{"key":"ref_4","first-page":"43","article-title":"Waardenburg syndrome recessive entity unmasked by the deletion; in that case patients with a 13q deletion on one (WS): the analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q","volume":"48","author":"Asher, J.H.; Morell, R.; Friedman, T.B.","year":"1991","unstructured":"Asher JH, Morell R, Friedman TB. Waardenburg syndrome recessive entity unmasked by the deletion; in that case patients with a 13q deletion on one (WS): the analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q. Am J Hum Genet 1991;48:43-52. chromosome would only express WS\/HSCR if they had a second mutation on the non-deleted","journal-title":"Am J Hum Genet; chromosome would only express WS\/HSCR if they had a second mutation"},{"key":"ref_5","first-page":"902","article-title":"Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first chromosome. On the other hand, the inheritance could be dominant with reduced report of the WS consortium","volume":"50","author":"Farrer, L.A.; Grundfast, K.M.; Amos, J.","year":"1992","unstructured":"Farrer LA, Grundfast KM, Amos J, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first chromosome. On the other hand, the inheritance could be dominant with reduced report of the WS consortium. Am J Hum Genet 1992;50: 902-13.","journal-title":"Am J Hum Genet"},{"key":"ref_6","first-page":"767","article-title":"Splotch (Sp2H), a mutapenetrance. Both hypotheses would adequately explain why some patients with 13q deletions tion affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax3","volume":"67","author":"Epstein, D.J.; Vekemans, M.; Gros, P.","year":"1991","unstructured":"Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutapenetrance. Both hypotheses would adequately explain why some patients with 13q deletions tion affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax3. Cell 1991;67:767-74. do not have HSCR. Also, patients with gross rearrangements of 2q35 deleting PAX3 do not","journal-title":"Cell; do not have HSCR. Also, patients with gross rearrangements of 2q35 deleting PAX3 do not"},{"key":"ref_7","doi-asserted-by":"crossref","DOI":"10.1038\/355635a0","article-title":"syndrome patients have mutations in the human homologue of the Pax-3 paired box gene","author":"Tassabehji, M.","year":"1992","unstructured":"Tassabehji M, Read A, Newton VE, et al. Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355: necessarily show signs of WS.4445 In summary, the findings from our study 635-6.","journal-title":"Nature; 355: necessarily show signs of WS.4445 In summary, the findings from our study 635-6"},{"key":"ref_8","first-page":"637","article-title":"An exonic mutation in the HuP2 paired domain gene corrobate the published data from which it","volume":"355","author":"Baldwin, C.T.; Hoth, C.F.; Amos, J.A.; da-Silva, E.O.; Milunsky, A.","year":"1992","unstructured":"Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene corrobate the published data from which it is clear that (1) WS is associated with HSCR in many cases, (2) HSCR is associated with 1 3q deletions, (3) a family with characteristics of causes Waardenburg syndrome. Nature 1992;355:637-8.","journal-title":"Nature; WS is associated with HSCR in many cases"},{"key":"ref_9","article-title":"A frameshift mutation in the Hup2 paired domain of the probable human homologue of murine Pax3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet 1992; 1: 243-7. both HSCR and WS shows linkage to chromosome 1 3q22. Our study shows that a patient with a 13q21.2-q32 deletion has characteristics","volume-title":"of WS, and that WS and HSCR in","author":"Morell, R.; Friedman, T.B.; Moeliopawiro, S.","unstructured":"Morell R, Friedman TB, Moeliopawiro S, et al. A frameshift mutation in the Hup2 paired domain of the probable human homologue of murine Pax3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet 1992;1:243-7. both HSCR and WS shows linkage to chromosome 1 3q22. Our study shows that a patient with a 13q21.2-q32 deletion has characteristics of WS, and that WS and HSCR in two sibs of"},{"key":"ref_10","first-page":"728","article-title":"Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes","volume":"55","author":"Farrer, L.A.; Amos, K.A.; Asher, J.H.","year":"1994","unstructured":"Farrer LA, Amos KA, Asher JH, et al. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am JTHum Genet 1994;55:728-37.","journal-title":"Am JTHum Genet"},{"key":"ref_11","first-page":"509","article-title":"Liu XZ, Read AP. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome one family might be the result of a mutated gene in the same region of chromosome 13. Taken together, these data strongly suggest the existence of a gene on chromosome 1 3q that is involved in neural crest cell migration, causing either HSCR, WS, or a combination of both. 3pl2-pl4.1","volume":"7","author":"Hughes, A.E.; Newton, V.E.","year":"1994","unstructured":"Hughes AE, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome one family might be the result of a mutated gene in the same region of chromosome 13. Taken together, these data strongly suggest the existence of a gene on chromosome 1 3q that is involved in neural crest cell migration, causing either HSCR, WS, or a combination of both. 3pl2-pl4.1. 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Am Hum Genet 1993;52:455-62.","journal-title":"I. Am Hum Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0022-3476(81)80339-3","article-title":"White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome","volume":"99","author":"Shah, K.N.; Dalal, S.J.; Desai, M.P.","year":"1981","unstructured":"Shah KN, Dalal SJ, Desai MP, et al. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. Pediatr 1981;99:432-5.","journal-title":"Pediatr"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1002\/ajmg.1320270322","article-title":"Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis","volume":"27","author":"Meire, F.; Standaert, L.; De Laey, J.J.; Zeng, L.H.","year":"1987","unstructured":"Meire F, Standaert L, De Laey JJ, Zeng LH. 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