{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T14:06:31Z","timestamp":1767967591529,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T00:00:00Z","timestamp":1624320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rothmund\u2013Thomson syndrome (RTS) is a rare autosomal\u2010recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in <jats:italic>ANAPC1<\/jats:italic> or <jats:italic>RECQL4<\/jats:italic> have been identified to underlie RTS. Either Sanger sequencing or next\u2010generation sequencing (NGS) was performed for three Chinese RTS patients. Copy number variants were called by the eXome\u2010Hidden Markov Model using read\u2010depth data of NGS, and the putative heterozygous deletion was confirmed by PCR with multiple primers. The breakpoints were identified by Sanger sequencing. All patients presented with characteristic features of poikiloderma, short stature, and sparse hair, eyelashes, and eyebrows. In addition, patient 1 had intellectual disability and speech delay, and patient 2 developed osteosarcoma when she was 13\u00a0years old. Biallelic <jats:italic>RECQL4<\/jats:italic> variants were identified in all three patients. Five of the six variants were novel, including c.119\u20101G&gt;A, c.2886\u20101G&gt;A, c.2290C&gt;T (p.Gln764*), and c.3552dupG (p.Arg1185Glufs*42), and a gross deletion encompassing exons 6 to 10. Our study expands the genetic and clinical spectrums of RTS. Furthermore, we reported the first heterozygous gross deletion in <jats:italic>RECQL4<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/1346-8138.16015","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T08:05:23Z","timestamp":1624349123000},"page":"1511-1517","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel pathogenic variants in the <i>RECQL4<\/i> gene causing Rothmund\u2010Thomson syndrome in three Chinese patients"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3772-9068","authenticated-orcid":false,"given":"Yingzi","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Shunyi Maternal and Children\u2019s Hospital of Beijing Children\u2019s Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases Beijing 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