{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T19:29:17Z","timestamp":1782588557371,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873984"],"award-info":[{"award-number":["81873984"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Tricho\u2010rhino\u2010phalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, a pear\u2010shaped nose, and cone\u2010shaped epiphyses. This condition is caused by haploinsufficiency or dominant\u2010negative effect of the <jats:italic>TRPS1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we analyzed the clinical and genetic data of five unrelated TRPS patients. They were suspected of having TRPS on the basis of clinical and radiological features including typical hair and facial features, as well as varying degrees of skeletal abnormalities. Next\u2010generation sequencing was performed to identify variants of the <jats:italic>TRPS1<\/jats:italic> gene in the five patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In patient 1, we found a novel mutation at c.1338C&gt;A (p.Tyr446*) (<jats:italic>de novo<\/jats:italic>). Patient 2 had a novel phenotype of hydrocephaly and Arnold\u2013Chiari syndrome and we also found a maternally inherited novel mutation at c.2657C&gt;A (p.Ser886*). Patient 3 had a <jats:italic>de novo<\/jats:italic> novel mutation at c.2726G&gt;C (p.Cys909Ser) leading to more severe phenotypes. Patient 4 had a paternally inherited known mutation at c.2762G&gt;A (p.Arg921Gln). Patient 5 with a novel phenotype of hepatopathy had a novel deletion at [GRCh37] del(8)(q23.3\u2010q24.11) chr8:g.116,420,724\u2010119,124,058 (over 2,700\u00a0kb). In addition, the patient 3 who harboring missense variants in the GATA binding domain of <jats:italic>TRPS1<\/jats:italic> showed more severe craniofacial and skeletal phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We describe four novel mutations and two novel phenotypes in five patients. The mutational and phenotypic spectrum of TRPS is broadened by our study on <jats:italic>TRPS<\/jats:italic> mutations. Our results reveal the significance of molecular analysis of <jats:italic>TRPS1<\/jats:italic> for improving the clinical diagnosis of TRPS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1417","type":"journal-article","created":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T08:49:26Z","timestamp":1597049366000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>TRPS1<\/i> mutation detection in Chinese patients with Tricho\u2010rhino\u2010phalangeal syndrome and identification of four novel mutations"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0378-283X","authenticated-orcid":false,"given":"Chen","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai People's Republic of 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