{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:47:19Z","timestamp":1762177639789,"version":"3.37.3"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T00:00:00Z","timestamp":1693267200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T00:00:00Z","timestamp":1693267200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770660"],"award-info":[{"award-number":["81770660"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in <jats:italic>SALL1<\/jats:italic>. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new <jats:italic>SALL1<\/jats:italic> mutations and study of the relation between <jats:italic>SALL1<\/jats:italic> mutations and clinical features can facilitate diagnosis of Townes-Brocks syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We collected clinical data and blood samples of the two patients and their family members for whole-exome sequencing and Sanger sequencing. Prediction analysis of the SALL1variation protein structure was achieved using Alphafold. The clinical materials and gene sequencing results were analyzed. The clinical materials and gene sequencing results were analyzed. The related literature of Townes-Brocks syndrome were searched and the genotype-renal phenotype analysis was performed combined with this two cases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Based on the clinical features and gene sequencing results, the two patients were diagnosed as Townes-Brocks syndrome. Two novel <jats:italic>SALL1<\/jats:italic> mutations (c.878-887del and c.1240G\u2009&gt;\u2009T) were identified, both of which were pathogenic mutations. The correlation between genotypes and renal phenotypes in Townes-Brocks syndrome patients caused by <jats:italic>SALL1<\/jats:italic> mutation were summarized.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This study identified two novel mutations and provided new insights into the correlation of genotypes and renal phenotypes of Townes-Brocks syndrome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-023-02874-4","type":"journal-article","created":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T12:02:01Z","timestamp":1693310521000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review"],"prefix":"10.1186","volume":"18","author":[{"given":"Zhendong","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenfu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujie","family":"Diao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhouyang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangdong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bei","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6053-1987","authenticated-orcid":false,"given":"Guangyi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,8,29]]},"reference":[{"key":"2874_CR1","doi-asserted-by":"crossref","unstructured":"Townes P. and E.J.T.J.o.p. Brocks, Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. 1972. 81(2): p. 321\u20136.","DOI":"10.1016\/S0022-3476(72)80302-0"},{"key":"2874_CR2","doi-asserted-by":"crossref","unstructured":"Liberalesso P et al. Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation. 2017. 18(1): p. 125.","DOI":"10.1186\/s12881-017-0483-7"},{"key":"2874_CR3","doi-asserted-by":"crossref","unstructured":"Albrecht B, Liebers M. and J.J.A.j.o.m.g.P.A. Kohlhase, atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. 2004(1): p. 102\u20134.","DOI":"10.1002\/ajmg.a.20484"},{"issue":"5","key":"2874_CR4","doi-asserted-by":"publisher","first-page":"1230","DOI":"10.1097\/01.ASN.0000013300.11876.37","volume":"13","author":"S Rossetti","year":"2002","unstructured":"Rossetti S, et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrology: JASN. 2002;13(5):1230\u20137.","journal-title":"J Am Soc Nephrology: JASN"},{"key":"2874_CR5","doi-asserted-by":"crossref","unstructured":"Kiefer S et al. Murine Sall1 represses transcription by recruiting a histone deacetylase complex. 2002. 277(17): p. 14869\u201376.","DOI":"10.1074\/jbc.M200052200"},{"key":"2874_CR6","doi-asserted-by":"crossref","unstructured":"Chai L et al. Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 2006. 281(28): p. 18918\u201326.","DOI":"10.1074\/jbc.M600180200"},{"key":"2874_CR7","doi-asserted-by":"crossref","unstructured":"Miller E et al. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature 2012(3): p.\u00a0533 \u2013 40.","DOI":"10.1002\/ajmg.a.34426"},{"key":"2874_CR8","first-page":"1385","volume":"53","author":"J de Celis","year":"2009","unstructured":"de Celis J. R.J.T.I.j.o.d.b. Barrio. Regul Function Spalt Proteins Dur Anim Dev. 2009;53:1385\u201398.","journal-title":"Regul Function Spalt Proteins Dur Anim Dev"},{"key":"2874_CR9","doi-asserted-by":"crossref","unstructured":"Richards S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 2015. 17(5): p. 405\u201324.","DOI":"10.1038\/gim.2015.30"},{"issue":"10","key":"2874_CR10","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","volume":"139","author":"P Stenson","year":"2020","unstructured":"Stenson P, et al. The human gene mutation database (HGMD): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139(10):1197\u2013207.","journal-title":"Hum Genet"},{"issue":"28","key":"2874_CR11","doi-asserted-by":"publisher","first-page":"18918","DOI":"10.1074\/jbc.M600180200","volume":"281","author":"L Chai","year":"2006","unstructured":"Chai L, et al. Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 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SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1\/PIN2 and localizes to pericentromeric heterochromatin. 2001. 10(26): p. 3017\u201324.","DOI":"10.1093\/hmg\/10.26.3017"},{"key":"2874_CR20","doi-asserted-by":"crossref","unstructured":"Kohlhase J et al. High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 2003. 40(11): p. e127.","DOI":"10.1136\/jmg.40.11.e127"},{"key":"2874_CR21","doi-asserted-by":"crossref","unstructured":"Bozal-Basterra L et al. Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome. 2018. 102(2): p. 249\u201365.","DOI":"10.1016\/j.ajhg.2017.12.017"},{"key":"2874_CR22","doi-asserted-by":"crossref","unstructured":"Kiefer S et al. 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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. 2000. 37(4): p. 303\u20137.","DOI":"10.1136\/jmg.37.4.303"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-023-02874-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-023-02874-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-023-02874-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T03:40:09Z","timestamp":1700278809000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-023-02874-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,29]]},"references-count":29,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["2874"],"URL":"https:\/\/doi.org\/10.1186\/s13023-023-02874-4","relation":{},"ISSN":["1750-1172"],"issn-type":[{"type":"electronic","value":"1750-1172"}],"subject":[],"published":{"date-parts":[[2023,8,29]]},"assertion":[{"value":"16 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 August 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted according to the guidelines of the Declaration of Helsinki and approved by the Ethics Committee of Qilu Hospital of Shandong University (KYLL-202306-085). Informed consent was obtained from all the patients and their families.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The consent for publication was acquired from patients or patients\u2019 parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"250"}}