{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:45:25Z","timestamp":1790711125301,"version":"4.1.0"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,10,12]],"date-time":"2024-10-12T00:00:00Z","timestamp":1728691200000},"content-version":"vor","delay-in-days":1338,"URL":"https:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Open access funding enabled and organized by Projekt DEAL"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,1]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Rare syndromic skin disorders may represent a diagnostic challenge.<\/jats:p>\n <\/jats:sec>\n \n Aims<\/jats:title>\n We report a unique case associating cutaneous manifestations and developmental delay.<\/jats:p>\n <\/jats:sec>\n \n Materials & Methods<\/jats:title>\n The affected 14 months old boy had poikiloderma, facial dysmorphism with deep-set eyes, atrichia, as well as nail dysplasia and non-descended testes. In addition, his psychomotor development was delayed. Exome sequencing and molecular karyotyping via array-CGH (oligo-array, 180k Agilent, design 22060) were performed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Mutations in RECQL4 (found in patients with RTS2) were first excluded. In the ANAPC1 gene, a novel combination of a recurrent intronic mutation (c.2705-198C&gt;T) and a deletion of the second ANAPC1 allele was detected, thus confirming the clinical diagnosis of RTS1. The deletion on chromosome 2q13 comprised further genes and spanned 1,7 megabases. Heterozygous deletions in this region are known as 2q13 microdeletion syndrome and are associated with developmental delay, autism and facial dysmorphism.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n The genetic findings most probably explain both, the RTS1 features and the developmental delay. Genetic diagnosis in RTS is indispensable to confirm the specific subtype and its associated risks: juvenile cataracts are features of RTS1 (ANAPC1 gene), whereas a high risk of osteosarcoma is part of RTS2 (RECQL4 gene). Thus, the patient described here is at high risk for the development of juvenile cataracts and requires regular ophthalmologic examination.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This case report underlines the necessity of thorough clinical diagnosis prior to genetic diagnosis of RTS1, since the recurrent intronic ANAPC1 mutation is otherwise missed.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ski2.12","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T18:12:06Z","timestamp":1613153526000},"source":"Crossref","is-referenced-by-count":7,"title":["Rothmund\u2013Thomson Syndrome Type 1 Caused by Biallelic ANAPC1 Gene Mutations"],"prefix":"10.1093","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1640-8855","authenticated-orcid":false,"given":"B.","family":"Zirn","sequence":"first","affiliation":[{"name":"Genetikum Stuttgart, Genetic Counselling and Diagnostics , Stuttgart ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Bernbeck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rems-Murr-Klinikum , Winnenden ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Alt","sequence":"additional","affiliation":[{"name":"Genetikum Neu-Ulm, Genetic Counselling and Diagnostics , Neu-Ulm ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Oeffner","sequence":"additional","affiliation":[{"name":"Genetikum Neu-Ulm, Genetic Counselling and Diagnostics , Neu-Ulm ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gerhardinger","sequence":"additional","affiliation":[{"name":"Genetikum Neu-Ulm, Genetic Counselling and Diagnostics , Neu-Ulm ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-507X","authenticated-orcid":false,"given":"C.","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, University of Freiburg , Freiburg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,2,12]]},"reference":[{"key":"2025010818014274300_ski212-bib-0001","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/8788","article-title":"Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome","volume":"22","author":"Kitao","year":"1999","journal-title":"Nat Genet"},{"key":"2025010818014274300_ski212-bib-0002","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/978-3-030-43085-6_3","article-title":"RECQ DNA helicates and osteosarcoma","volume":"1258","author":"Lu","year":"2020","journal-title":"Adv Exp Med Biol"},{"key":"2025010818014274300_ski212-bib-0003","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.201800120","article-title":"Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome","volume":"2","author":"Yokoyama","year":"2019","journal-title":"Life Sci Alliance"},{"key":"2025010818014274300_ski212-bib-0004","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Wang","year":"1999"},{"key":"2025010818014274300_ski212-bib-0005","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.ajhg.2019.06.011","article-title":"Mutations in ANAPC1, encoding a scaffold subunit of the anaphase-promoting complex, cause Rothmund-Thomson syndrome type 1","volume":"105","author":"Ajeawung","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2025010818014274300_ski212-bib-0006","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s13039-015-0157-0","article-title":"A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms","volume":"8","author":"Hladilkova","year":"2015","journal-title":"Mol Cytogenet"}],"container-title":["Skin Health and 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