{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:39:06Z","timestamp":1792665546878,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T00:00:00Z","timestamp":1792627200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Rothmund\u2010Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, skeletal abnormalities, and an increased predisposition to malignancies. Pathogenic variants in the\n                      <jats:italic>RECQL4<\/jats:italic>\n                      gene represent the most common genetic cause of RTS type 2. However, the full phenotypic spectrum, particularly regarding endocrine manifestations, remains incompletely understood.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To report novel compound heterozygous\n                      <jats:italic>RECQL4<\/jats:italic>\n                      pathogenic variant in a Chinese patient, describe a previously unreported endocrine phenotype (gynecomastia), and provide a comprehensive review of the literature regarding the\n                      <jats:italic>RECQL4<\/jats:italic>\n                      mutational spectrum and differential diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A comprehensive clinical evaluation, including detailed physical examination, dermatoscopic assessment, and histopathological analysis, was performed. Whole\u2010exome and Sanger sequencing were conducted to identify the causative variants. A literature review was additionally performed to contextualize the clinical and genetic findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A 14\u2010year\u2010old boy presented with classical poikiloderma, short stature, and an unreported feature of gynecomastia associated with low testosterone levels. Genetic testing identified compound heterozygous variants in\n                      <jats:italic>RECQL4<\/jats:italic>\n                      : a known nonsense variant c.2290C&gt;T (p.Glu764*) and a novel frameshift variant c.2053del (p.Asp685Thrfs*5). Our literature review further delineated the differential diagnosis of poikiloderma among related genodermatoses and highlighted the systemic impact of\n                      <jats:italic>RECQL4<\/jats:italic>\n                      dysfunction.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The identification of the novel c.2053del variant broadens the known mutational landscape of\n                      <jats:italic>RECQL4<\/jats:italic>\n                      . Furthermore, the integration of our newly observed endocrine phenotype with a literature review underscores the necessity of multidisciplinary evaluation\u2014including endocrinological, orthopedic, and audiological assessments\u2014in the comprehensive management of RTS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70320","type":"journal-article","created":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:51:16Z","timestamp":1792662676000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Compound Heterozygous\n                    <scp>\n                      <i>RECQL4<\/i>\n                    <\/scp>\n                    Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund\u2010Thomson Syndrome: Case Report and Literature Review"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0467-6070","authenticated-orcid":false,"given":"Yuanyuan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7278-0024","authenticated-orcid":false,"given":"Lulu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0258-6008","authenticated-orcid":false,"given":"Chunjiao","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,22]]},"reference":[{"issue":"1","key":"e_1_2_11_2_1","first-page":"1","article-title":"Recq4\u2010mus81 Interaction Contributes to Telomere Maintenance With Implications to Rothmund\u2010Thomson Syndrome","volume":"16","author":"Ashraf R.","year":"2014","journal-title":"Nature Communications"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp070677"},{"issue":"4","key":"e_1_2_11_4_1","first-page":"219","article-title":"Microcephaly as a Characteristic Feature of Rothmund\u2010Thomson Syndrome","volume":"223","author":"Broom M. 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