{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:30:56Z","timestamp":1790767856162,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T00:00:00Z","timestamp":1237161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three autosomal recessive disorders are associated with mutations in the <jats:italic>RECQL4<\/jats:italic> gene: Rothmund\u2013Thomson syndrome (RTS), Baller\u2013Gerold syndrome (BGS), and RAPADILINO syndrome. BGS is characterized by two major clinical abnormalities: craniosynostosis and preaxial limb anomalies but not cancer development. We performed <jats:italic>RECQL4<\/jats:italic> mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK\/T\u2010cell lymphoma. Sequencing was used to identify <jats:italic>RECQL4<\/jats:italic> mutations, and RNA analysis was used to examine expression of mRNA in leukocytes. The patient was found to be compound heterozygous for two mutations in exon 15, namely c.[2492_2493delAT]\u2009+\u2009c.[2506_2518del13bp]. We found that only the allele with 13 bp deletion was expressed in blood leukocytes. Our patient showed severe phenotypic abnormalities, with clinical signs of both BGS and RTS. She developed an extranodal NK\/T\u2010cell lymphoma, which is extremely rare in children of her age and is the first described case of BGS with development of a cancer. This case of a <jats:italic>RECQL4<\/jats:italic>\u2010related disorder highlights the significant phenotypic overlap between the classically delineated RECQL4\u2010associated syndromes and questions the need to redefine or combine these clinical entities. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32736","type":"journal-article","created":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T19:08:11Z","timestamp":1237230491000},"page":"755-759","source":"Crossref","is-referenced-by-count":23,"title":["A patient with Baller\u2013Gerold syndrome and midline NK\/T lymphoma"],"prefix":"10.1002","volume":"149A","author":[{"given":"Marusa","family":"Debeljak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Zver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janez","family":"Jazbec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-007-6468-5"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.70.830.9135453"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000214457.58378.1a"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.5.617"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5959"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/8788"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2005.07.042"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<223::AID-AJMG7>3.0.CO;2-Z"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10065"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg306"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0447-6"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031781"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8635(18)30117-7"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/341234"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.9.669"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32736","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32736","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:13:55Z","timestamp":1697602435000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32736"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32736"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32736","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}