{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T14:15:22Z","timestamp":1784297722196,"version":"3.55.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T00:00:00Z","timestamp":1707091200000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four\u2010generation pedigree with 10 members affected by BDE and short stature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After the informed consent was signed, clinical data and peripheral blood samples were collected from available family members. Karyotype analysis, array\u2010CGH, next\u2010generation sequencing, and Sanger sequencing were employed to identity the pathogenic candidate gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No translocation or microdeletion\/duplication was found in karyotype analysis and array\u2010CGH; hence, a novel heterozygous mutation, c.146dupA. p.S50Vfs*22, was detected by next\u2010generation sequencing in <jats:italic>PTHLH<\/jats:italic> gene, leading to a premature stop codon. Subsequently, the mutation was confirmed by Sanger sequencing and co\u2010segregation analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of gene <jats:italic>PTHLH<\/jats:italic> in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum of <jats:italic>PTHLH<\/jats:italic> in BDE.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2393","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T07:34:51Z","timestamp":1707291291000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5772-6991","authenticated-orcid":false,"given":"Jian","family":"Sun","sequence":"first","affiliation":[{"name":"Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital The Affiliated Suzhou Hospital of Nanjing Medical University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nian","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics LinShu People's Hospital  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengquan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Suzhou Municipal Hospital The Affiliated Suzhou Hospital of Nanjing Medical University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3513-504X","authenticated-orcid":false,"given":"Hongbo","family":"Cheng","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital The Affiliated Suzhou Hospital of Nanjing Medical University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangxin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Suzhou Municipal Hospital The Affiliated Suzhou Hospital of Nanjing Medical University  Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3803\/EnM.2018.33.2.252"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00056-09"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8633-x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.4490"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.266"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.01.006"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.12.044"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1120962300012622"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10911-013-9283-7"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/CM9.0000000000000327"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.1.160"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.172"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/374721"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.3.277"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1346.002"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI65508"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp553"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01238.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-141"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38067"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-111212-133424"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200001203420306"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-15"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37490"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10237-006-0035-0"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.240"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5275.613"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.03.019"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.19.10240"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)83294-X"}],"container-title":["Molecular Genetics &amp; 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