{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:46:12Z","timestamp":1764171972782},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2009,9,16]],"date-time":"2009-09-16T00:00:00Z","timestamp":1253059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Waardenburg\u2013Shah syndrome (Waardenburg syndrome type IV\u2010WS4) is an auditory\u2010pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin\u2010B receptor <jats:italic>(EDNRB<\/jats:italic>) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and\/or sensorineural deafness. We investigated the status of the <jats:italic>EDNRB<\/jats:italic> gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An <jats:italic>EDNRB<\/jats:italic> specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33031","type":"journal-article","created":{"date-parts":[[2009,9,17]],"date-time":"2009-09-17T01:40:38Z","timestamp":1253151638000},"page":"2290-2295","source":"Crossref","is-referenced-by-count":18,"title":["Clinical variability of Waardenburg\u2013Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin\u2010B receptor locus"],"prefix":"10.1002","volume":"149A","author":[{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Collin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00fcjde","family":"Arapo\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nezir","family":"Suyug\u00fcl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.9.646"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10864"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-442"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.71.3.F212"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32814"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2007.04.012"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.100"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.85.11.1384"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1217"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90016-7"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.10.002"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-005-1553-z"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80339-3"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1451"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200307000-00010"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00418397"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.7.531"},{"key":"e_1_2_5_23_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 and with congenital deafness","volume":"3","author":"Waardenburg PJ","year":"1951","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<285::AID-AJMG7>3.0.CO;2-M"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33031","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:21:41Z","timestamp":1697055701000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,24]]},"references-count":23,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["10.1002\/ajmg.a.33031"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33031","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,24]]}}}