{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:19:38Z","timestamp":1790705978485,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,8,16]],"date-time":"2018-08-16T00:00:00Z","timestamp":1534377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain phenotypes, the most recognized being skeletal dysplasias associated with short stature, lead to cultural interaction and assortative mating. To this well\u2010known example, may be added deafness which brings together individuals with a variety of deafness genotypes, some being dominant. Waardenburg syndrome is one such autosomal dominant disorder in which affected individuals may interact culturally because of deafness. Biallelic genetic alterations for two Waardenburg genes, <jats:italic>PAX3<\/jats:italic> and <jats:italic>MITF<\/jats:italic> have been previously recognized. Herein, we report biallelic deletions in <jats:italic>SOX10<\/jats:italic>, a gene associated with Waardenburg syndromes type II and IV. The affected fetuses have a severe phenotype with a lack of fetal movement resulting in four\u2010limb arthrogryposis and absence of palmar and plantar creases, white hair, dystopia canthorum, and in one case cleft palate and in the other a cardiac malformation.<\/jats:p><jats:p>A video abstract of this article can be found at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/players.brightcove.net\/3806881048001\/experience_5be9f0059c571e0013a32a65\/share.html\">https:\/\/players.brightcove.net\/3806881048001\/experience_5be9f0059c571e0013a32a65\/share.html<\/jats:ext-link><\/jats:p>","DOI":"10.1002\/ajmg.a.40362","type":"journal-article","created":{"date-parts":[[2018,8,16]],"date-time":"2018-08-16T13:35:46Z","timestamp":1534426546000},"page":"1968-1971","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Biallelic deletions of the Waardenburg II syndrome gene, <i>SOX10<\/i>, cause a recognizable arthrogryposis syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1806-6345","authenticated-orcid":false,"given":"Roger E.","family":"Stevenson","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Vincent","sequence":"additional","affiliation":[{"name":"University of South Carolina School of Medicine  Columbia South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine J.","family":"Spellicy","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Friez","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alka","family":"Chaubey","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590227"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302557"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.186601"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.004"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-005-9003-6"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000446617"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.9.5161"},{"key":"e_1_2_6_10_1","first-page":"226","article-title":"Albinisme partiel (leucisme) accompagn\u00e9 de surdimutit\u00e9, d'ost\u00e9omyodysplasie, de raideurs articulaires cong\u00e9nitales multiples et d'autres malformations cong\u00e9nitales","volume":"22","author":"Klein D.","year":"1947","journal-title":"Arch Klaus Stift Vererb Forsch"},{"key":"e_1_2_6_11_1","first-page":"38","article-title":"Albinisme partiel (leucisme) avec surdi\u2010mutit\u00e9, bl\u00e9pharophimosis et dysplasies myo\u2010ost\u00e9oarticulaires","volume":"5","author":"Klein D.","year":"1950","journal-title":"Helvet Paediat Acta"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140205"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1009439630457"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4703"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.449"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20260"},{"issue":"5","key":"e_1_2_6_18_1","first-page":"1173","article-title":"Homozygosity for 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