{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:01:31Z","timestamp":1770814891827,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,3]],"date-time":"2016-02-03T00:00:00Z","timestamp":1454457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Nature Science Foundation of China","doi-asserted-by":"crossref","award":["81472867"],"award-info":[{"award-number":["81472867"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Research Fund for the Doctoral Program of Higher Education","award":["20130073120014"],"award-info":[{"award-number":["20130073120014"]}]},{"name":"Natural Science Foundation of Shanghai Jiaotong University School of Medicine","award":["13XJ10023"],"award-info":[{"award-number":["13XJ10023"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,10]]},"abstract":"Pathogenic mutations in genes (SASH1<\/jats:styled-content><\/jats:italic> and PTPN11<\/jats:styled-content><\/jats:italic>) can cause a rare genetic disorder associated with pigmentation defects and the well\u2010known LEOPARD<\/jats:styled-content> syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines\u2010related syndromes. ADAR1<\/jats:styled-content>, ABCB6<\/jats:styled-content>, SASH1<\/jats:styled-content><\/jats:italic> and PTPN11<\/jats:styled-content><\/jats:italic> were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations. Two novel mutations c.1537A<\/jats:styled-content>>C (p.Ser513Arg<\/jats:styled-content>) and 1527_1530dupAAGT (p.Leu511Lysfs<\/jats:styled-content>*21) in SASH1<\/jats:styled-content><\/jats:italic> and a common p.Thr468Met<\/jats:styled-content> mutation in PTPN11<\/jats:styled-content><\/jats:italic> were detected in three pediatric patients with lentiginous phenotypes, respectively. Comparisons between clinical presentations showed that SASH1<\/jats:styled-content><\/jats:italic>\u2010related phenotypes can exhibit hyper\u2010 and hypopigmentation on the trunk and extremities, similar to dyschromatosis, while scattered caf\u00e9 au\u2010lait spots usually appeared in PTPN11<\/jats:styled-content><\/jats:italic>\u2010related LEOPARD<\/jats:styled-content> syndrome. Furthermore, the similarity in the clinical presentations of Peutz\u2013Jeghers syndrome, Laugier\u2013Hunziker syndrome, xeroderma pigmentosum, neurofibromatosis type I, suggesting that these conditions should be added into the differential diagnoses of lentiginous phenotypes.<\/jats:p>","DOI":"10.1111\/cge.12728","type":"journal-article","created":{"date-parts":[[2016,1,11]],"date-time":"2016-01-11T14:28:04Z","timestamp":1452522484000},"page":"372-377","source":"Crossref","is-referenced-by-count":21,"title":["Lentiginous phenotypes caused by diverse pathogenic genes (SASH1<\/scp><\/i> and PTPN11<\/scp><\/i>): clinical and molecular discrimination"],"prefix":"10.1111","volume":"90","author":[{"given":"J.","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oooo.2012.12.012"},{"issue":"9","key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1001\/archderm.1989.01670210069009","article-title":"Inherited patterned lentiginosis in blacks","volume":"125","author":"O'Neill JF","year":"1989","journal-title":"Arch Dermatol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2012.12.025"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2012.1099"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206474"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.213"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2015.292"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2012.01661.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/500850"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.022"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.003"},{"issue":"4","key":"e_1_2_6_13_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1159\/000342251","article-title":"LEOPARD syndrome: clinical features and gene mutations","volume":"3","author":"Martinez\u2010Quintana E","year":"2012","journal-title":"Mol Syndromol"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2123"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31156"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2010.07.002"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12728","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12728","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:32:46Z","timestamp":1696368766000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,3]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/cge.12728"],"URL":"https:\/\/doi.org\/10.1111\/cge.12728","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,3]]}}}