{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T18:32:10Z","timestamp":1785436330742,"version":"3.56.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cenani\u2010Lenzsyndactyly\u2009syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypoplasia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>Our report described an individual with mild phenotypes from China. His parents were not consanguineous. The affected individual was non\u2010dysmorphic. Standard X\u2010ray showed that the both hands have only four metacarpal bones. The distal end of the first metacarpal bone on the right was relatively slender, and the distal phalanx was absent. Multiple phalanges and some soft tissues of both hands were fused. Exome sequencing revealed a novel biallelic c.282C\u27e9Avariant in low\u2010density lipoprotein receptor\u2010related protein 4 (LRP4; OMIM604270; NM_002334.4) causing p. (Asn94Lys) change in the encoded protein. This variant is predicted to be potentially pathogenic, affecting protein structure and function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a novel missense variant present in homozygosity in\u2009LRP4\u2009to broaden the pathogenic spectrum of\u2009LRP4\u2009in syndactyly, and exome sequencing technology is a powerful tool for genetic analysis in prenatal diagnosis and medical research, as a preferred method for the diagnosis of syndactyly and related phenotypes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2319","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T05:35:49Z","timestamp":1701149749000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel homozygous missense variant in <i>LRP4<\/i> causing <scp>Cenani\u2010Lenz<\/scp> syndactyly syndrome and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5942-7821","authenticated-orcid":false,"given":"Yadong","family":"Fu","sequence":"first","affiliation":[{"name":"Medical Genetic Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueyun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing'e","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Dong","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianli","family":"Zheng","sequence":"additional","affiliation":[{"name":"Medical Genetic Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbing","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center The Affiliated Yancheng Maternity &amp; Child Health Hospital of Yangzhou University Medical School  Yancheng China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,27]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.05.004"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.085118"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3143"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438491"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2004.10.024"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010018\u20100646\u20101"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328306a6ed"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.13376\/j.cbls\/2018101"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi381"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.2174\/1874325001206010014"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35920"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010418"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010021\u201000995\u2010x"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.04.007"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.190330"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.03.004"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36647"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.14"},{"key":"e_1_2_12_20_1","volume-title":"The functional studt of Cenani\u2010Lenz syndactyly syndrome causative gene LRP4 in limb and kidney development","author":"Pan Z.","year":"2016"},{"issue":"1","key":"e_1_2_12_21_1","first-page":"41","article-title":"A variant of Cenani\u2010Lenz type syndactyly","volume":"11","author":"Seven M.","year":"2000","journal-title":"Genetic Counseling"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2006.01.007"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000311"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605\u2010200304000\u201000001"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460\u20109568.2006.04846.x"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02696"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg599"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61971"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13050771"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:24:18Z","timestamp":1706531058000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,27]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2319"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2319","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,27]]},"assertion":[{"value":"2023-02-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2319"}}