{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:46:06Z","timestamp":1747187166876,"version":"3.40.5"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,7]],"date-time":"2024-04-07T00:00:00Z","timestamp":1712448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170717"],"award-info":[{"award-number":["82170717"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Townes\u2010Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the <jats:italic>SALL1<\/jats:italic> gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment. A novel heterozygous variant c.3060T&gt;A (p.Tyr1020*) in exon 2 of the <jats:italic>SALL1<\/jats:italic> gene was identified in this proband. Pyrosequencing of the complementary DNA of the proband revealed that the variant transcript accounted for 48% of the total transcripts in peripheral leukocytes, indicating that this variant transcript has not undergone nonsense\u2010mediated mRNA decay. This variant c.3060T\u2009&gt;\u2009A is located at the terminal end of exon 2, proximal to the 3\u2032 end of the <jats:italic>SALL1<\/jats:italic> gene, and exerts a relatively minor impact on protein function. We suggest that the atypical TBS phenotype observed in the proband may be attributed to the truncated protein retaining partial <jats:italic>SALL1<\/jats:italic> function.<\/jats:p>","DOI":"10.1111\/nep.14300","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T04:44:09Z","timestamp":1712551449000},"page":"541-546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel heterozygous variant of the <scp><i>SALL1<\/i><\/scp> gene with atypical <scp>Townes\u2010Brocks<\/scp> syndrome phenotypes in Chinese family"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4341-6930","authenticated-orcid":false,"given":"Xuyan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Nephrology the Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Qingdao Eighth People's Hospital  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiyin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology the Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology the Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4632-8736","authenticated-orcid":false,"given":"Ruixiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Emergency, Qingdao Hospital University of Health and Rehabilitation Sciences (Qingdao Municipal Hospital)  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaomeng","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Nephrology the Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengjiao","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Nephrology the Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Nephrology Dalian Medical University  Dalian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Xin","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Xinqiao Hospital Army Medical University (Third Military Medical University)  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8756-9803","authenticated-orcid":false,"given":"Zhiying","family":"Liu","sequence":"additional","affiliation":[{"name":"Renal Division Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Weifang Medical University  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nephrology the Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Lang","sequence":"additional","affiliation":[{"name":"Department of Materials, Qingdao Hospital University of Health and Rehabilitation Sciences (Qingdao Municipal Hospital)  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3493-2714","authenticated-orcid":false,"given":"Leping","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Qingdao Hospital University of Health and Rehabilitation Sciences (Qingdao Municipal Hospital)  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,7]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_12_2_1","DOI":"10.1093\/hmg\/10.26.3017"},{"doi-asserted-by":"publisher","key":"e_1_2_12_3_1","DOI":"10.1002\/humu.9476"},{"doi-asserted-by":"publisher","key":"e_1_2_12_4_1","DOI":"10.1002\/humu.9362"},{"doi-asserted-by":"publisher","key":"e_1_2_12_5_1","DOI":"10.1002\/ajmg.a.62050"},{"unstructured":"KohlhaseJ.Townes\u2010brocks syndrome. In: Adam MP Everman DB Mirzaa GM Pagon RA Wallace SE Bean LJH GeneReviews(\u00ae). Seattle (WA): University of Washington Seattle Copyright \u00a9 1993\u20102022 University of Washington Seattle. 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