{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T09:34:24Z","timestamp":1761989664018,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:00:00Z","timestamp":1664150400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rothmund\u2013Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a rash that progresses to poikiloderma. Other common features include sparse hair, eyelashes and eyebrows, short stature, variable skeletal abnormalities, dental defects, cataracts, hypogonadism, and an increased risk for cancer, especially osteosarcoma and skin cancer. RTS is caused by biallelic pathogenic variants in <jats:italic>ANAPC1<\/jats:italic> (Type 1 RTS) or <jats:italic>RECQL4<\/jats:italic> (Type 2 RTS). We present an African girl with Type 2 RTS caused by a nonsense variant and an intronic variant in <jats:italic>RECQL4.<\/jats:italic> The patient presented precocious puberty, which has not been previously reported in RTS and that was treated with a GnRH analog, and anal stenosis, which has only been reported once. This case highlights the need to consider deep intronic variants in patients with RTS when pathogenic variants in the coding regions and exon\/intron boundaries are not identified and expands the phenotypic spectrum of this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62980","type":"journal-article","created":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T06:45:12Z","timestamp":1664261112000},"page":"280-283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Precocious puberty and anal stenosis in an African patient with Rothmund\u2013Thomson syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3512-1964","authenticated-orcid":false,"given":"Cristina","family":"Lorenzo","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, EPE  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 M.","family":"Travessa","sequence":"additional","affiliation":[{"name":"Medical Genetics Department and ERN\u2010BOND, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, EPE  Lisbon Portugal"},{"name":"Faculty of Medicine, Institute of Histology and Developmental Biology University of Lisbon  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Crist\u00f3v\u00e3o","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hospital de Santa Maria Centro Hospitalar Universit\u00e1rio Lisboa Norte, EPE  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Modamio\u2010H\u00f8ybj\u00f8r","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN\u2010BOND La Paz University Hospital  Madrid Spain"},{"name":"Institute of 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