{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:05:04Z","timestamp":1791389104578,"version":"4.3.3"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T00:00:00Z","timestamp":1543276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Science and Engineering Research Board, Government of India","award":["YSS\/2015\/002009"],"award-info":[{"award-number":["YSS\/2015\/002009"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>\n                    Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole\u2010exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non\u2010syndromic hearing loss (NSHL). Intra\u2010familial phenotypic variability and non\u2010penetrance were observed in families diagnosed with WS1, WS2 and WS4 with pathogenic variants in\n                    <jats:italic>PAX3<\/jats:italic>\n                    ,\n                    <jats:italic>MITF<\/jats:italic>\n                    and\n                    <jats:italic>EDNRB<\/jats:italic>\n                    , respectively. We observed gonosomal mosaicism for a variant in\n                    <jats:italic>PAX3<\/jats:italic>\n                    in an asymptomatic father of two affected siblings. For the first time, we report a biallelic pathogenic variant in\n                    <jats:italic>MITF<\/jats:italic>\n                    in a subject with WS2 and a biallelic variant in\n                    <jats:italic>EDNRB<\/jats:italic>\n                    was noted in a subject with WS2. An individual with isolated NSHL carried a pathogenic variant in\n                    <jats:italic>MITF<\/jats:italic>\n                    . Blended phenotype of NSHL and albinism was observed in a subject clinically diagnosed to have WS2. A phenocopy of WS1 was observed in a subject with a reported pathogenic variant in\n                    <jats:italic>GJB2<\/jats:italic>\n                    , known to cause isolated NSHL. These novel and infrequently reported observations exemplify the allelic and genetic heterogeneity and show phenotypic diversity of WS.\n                  <\/jats:p>","DOI":"10.1111\/cge.13468","type":"journal-article","created":{"date-parts":[[2018,11,5]],"date-time":"2018-11-05T05:39:14Z","timestamp":1541396354000},"page":"398-402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome"],"prefix":"10.1111","volume":"95","author":[{"given":"Puneeth H.","family":"Somashekar","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Centre  Cochin India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalpana","family":"Gowrishankar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Apollo Children's Hospitals  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radha R.","family":"Devi","sequence":"additional","affiliation":[{"name":"Rainbow Children Hospital and Sandor Life Sciences Pvt. Ltd.  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7108-1974","authenticated-orcid":false,"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Genetics Unit, Department of Pediatrics All India Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanya L.","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Genetics Metabolic Unit, Department of Pediatrics Advanced Pediatrics Center, PGIMER  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruti","family":"Bajaj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seth GS Medical College and KEM Hospital  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujatha","family":"Jagadeesh","sequence":"additional","affiliation":[{"name":"Department of Genetics, Mediscan Systems  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie E. S.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kasturba Medical College Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenoy","family":"Shailaja","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Kasturba Medical College Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2471-4094","authenticated-orcid":false,"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2008.303"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12631"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940311200913"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_6_7_1","first-page":"196","article-title":"A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1","volume":"19","author":"Hazan F","year":"2013","journal-title":"Mol 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