{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:11:29Z","timestamp":1777950689708,"version":"3.51.4"},"reference-count":17,"publisher":"Georg Thieme Verlag KG","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"abstract":"Abstract<\/jats:title>\n Rothmund\u2013Thomson syndrome is a rare autosomal recessive genodermatosis\n characterized by poikiloderma, growth retardation, juvenile cataracts,\n congenital anomalies, and skeletal defects. Rothmund\u2013Thomson syndrome type 2\n is caused by biallelic mutations in the RECQL4 gene, leading to DNA\n repair deficiency and cancer predisposition.<\/jats:p>\n We report six pediatric patients from three unrelated families carrying the\n same pathogenic variant associated with Rothmund\u2013Thomson syndrome type 2.\n All patients exhibited poikiloderma, facial telangiectasia, skin atrophy,\n growth retardation, microcephaly, and learning difficulties. Trunk was\n spared. One patient had hearing loss; another was diagnosed after the\n appearance of facial lesions, following chronic diarrhea and malnutrition.\n Osteopenia and metaphyseal growth lines were common on radiographs.\n Rothmund\u2013Thomson syndrome was diagnosed based on clinical and radiological\n features.<\/jats:p>\n RECQL4 sequencing revealed a homozygous pathogenic c.2415_2419del\n (p.Gly806_Arg807delinsTer) variant in four patients, and compound\n heterozygosity with the same variant and a novel pathogenic c.1663_1664del\n (p.Ser555GlyfsTer27) variant in two siblings.<\/jats:p>\n Rare DNA repair disorders should be considered in the differential diagnosis\n of genodermatoses, especially when accompanied by growth retardation and\n microcephaly. Our findings highlight the value of combining dermatological,\n radiological, and molecular assessments for accurate diagnosis and\n counseling. The recurrence of the same variant in unrelated families from\n one region suggests a founder effect.<\/jats:p>","DOI":"10.1055\/a-2787-6211","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:00:18Z","timestamp":1777881618000},"source":"Crossref","is-referenced-by-count":0,"title":["Clinical, Radiological and Molecular Genetic Findings in Six New\n Cases with Rothmund\u2013Thomson Syndrome: Evidence for a Founder RECQL4\n Variant"],"prefix":"10.1055","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3847-1364","authenticated-orcid":false,"given":"Asl\u0131","family":"Gen\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, University of Health Sciences, Ankara\n Bilkent City Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neriman","family":"\u015eahiner","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Private 19 May Hospital, Ankara,\n Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Health Sciences, Ankara\n Bilkent City Hospital, Ankara, Turkey"},{"name":"Faculty of Medicine, Department of Medical Genetics, Ankara Y\u0131ld\u0131r\u0131m\n Beyazit University, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merter","family":"Keceli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, University of Health Sciences,\n Ankara Bilkent City Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, University of Health Sciences, Ankara\n Bilkent City Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/1750-1172-5-2","article-title":"Rothmund-Thomson syndrome","volume":"5","author":"L Larizza","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/BF02720945","article-title":"Ueber Cataracten in Verbindung mit einer eigenth\u00fcmlichen Hautdegeneration","volume":"14","author":"A Rothmund","year":"1868","journal-title":"Graefes Archiv f\u00fcr Ophthalmologie"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1093\/jnci\/95.9.669","article-title":"Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in\n Rothmund-Thomson Syndrome","volume":"95","author":"L L Wang","year":"2003","journal-title":"J Natl Cancer Inst"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/j.ajhg.2019.06.011","article-title":"Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting\n Complex, Cause Rothmund-Thomson Syndrome Type 1","volume":"105","author":"N F Ajeawung","year":"2019","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1002\/mgg3.209","article-title":"Rothmund\u2013Thomson Syndrome: novel pathogenic mutations and frequencies of\n variants in the \n RECQL 4 and \n USB 1 (C16orf57)\n gene","volume":"4","author":"A Suter","year":"2016","journal-title":"Mol Genet Genomic Med"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"100836","DOI":"10.1016\/j.gim.2023.100836","article-title":"Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with\n increased cellular senescence","volume":"25","author":"L Averdunk","year":"2023","journal-title":"Genet Med"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1136\/jmg-2022-109119","article-title":"Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and\n severe growth failure reminiscent of Rothmund-Thomson syndrome","volume":"60","author":"R Di Lazzaro Filho","year":"2023","journal-title":"J Med Genet"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1038\/8788","article-title":"Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome","volume":"22","author":"S Kitao","year":"1999","journal-title":"Nat Genet"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/1096-8628(20010722)102:1%3C11::AID-AJMG1413%3E3.0.CO;2-A","article-title":"Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome\n patients","volume":"102","author":"L L Wang","year":"2001","journal-title":"Am J Med Genet"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"ski2.12","DOI":"10.1002\/ski2.12","article-title":"Rothmund\u2013Thomson Syndrome Type 1 Caused by Biallelic ANAPC1 Gene Mutations","volume":"1","author":"B Zirn","year":"2021","journal-title":"Skin Health Dis"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"1296409","DOI":"10.3389\/fragi.2023.1296409","article-title":"Rothmund-Thomson syndrome, a disorder far from solved","volume":"4","author":"D J Martins","year":"2023","journal-title":"Front Aging"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1111\/j.1346-8138.2008.00436.x","article-title":"Multiple cutaneous neoplasms in a patient with Rothmund\u2013Thomson syndrome: Case\n report and published work review","volume":"35","author":"G Stinco","year":"2008","journal-title":"J Dermatol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"570084","DOI":"10.3389\/fped.2020.570084","article-title":"DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype\n Patterns","volume":"8","author":"R Sharma","year":"2020","journal-title":"Front Pediatr"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1111\/j.1365-2133.1990.tb06272.x","article-title":"Rothmund-Thomson syndrome: a report of two patients and a review of the\n literature","volume":"122","author":"C Moss","year":"1990","journal-title":"Br J Dermatol"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"W62","DOI":"10.2214\/AJR.07.3619","article-title":"Radiographic Abnormalities in Rothmund-Thomson Syndrome and Genotype\u2013Phenotype\n Correlation with RECQL4 Mutation Status","volume":"191","author":"A R Mehollin-Ray","year":"2008","journal-title":"Am J Roentgenol"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"3046","DOI":"10.1093\/hmg\/ddx178","article-title":"Generalized metabolic bone disease and fracture risk in Rothmund-Thomson\n syndrome","volume":"26","author":"F Cao","year":"2017","journal-title":"Hum Mol Genet"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1111\/j.1529-8019.2012.01527.x","article-title":"Systemic retinoids in the management of ichthyoses and related skin types:\n Management of ichthyoses and related skin types","volume":"26","author":"J J DiGiovanna","year":"2013","journal-title":"Dermatol Ther"}],"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2787-6211.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:00:18Z","timestamp":1777881618000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2787-6211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,2]]},"references-count":17,"URL":"https:\/\/doi.org\/10.1055\/a-2787-6211","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"value":"0300-8630","type":"print"},{"value":"1439-3824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,2]]}}}