{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T16:08:09Z","timestamp":1769098089246,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"JSPS KAKENHI","award":["26293304"],"award-info":[{"award-number":["26293304"]}]},{"name":"JSPS KAKENHI","award":["16K15618"],"award-info":[{"award-number":["16K15618"]}]},{"name":"JSPS KAKENHI","award":["15K19620"],"award-info":[{"award-number":["15K19620"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mesomelia\u2010synostoses syndrome (MSS) is a rare, autosomal\u2010dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non\u2010recurrent deletion at 8q13 that always encompasses two coding\u2010genes, <jats:italic>SULF1<\/jats:italic> and <jats:italic>SLCO5A1<\/jats:italic>. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non\u2010allelic homologous recombination (NAHR) in at least two analyzed cases. We conducted targeted gene panel sequencing and subsequent array\u2010based copy number analysis in an 11\u2010year\u2010old undiagnosed Japanese female patient with multiple congenital anomalies that included mesomelic limb shortening and detected a novel 590\u2009Kb deletion at 8q13 encompassing the same gene set as reported previously, resulting in the diagnosis of MSS. Breakpoint sequences of the deleted region in our case demonstrated the first LINE\u20101s (L1s)\u2010mediated unequal NAHR event utilizing two distant L1 elements as homology substrates in this disease, which may represent a novel causative mechanism of the 8q13 deletion, expanding the range of mechanisms involved in the chromosomal rearrangements responsible for MSS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38122","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"1082-1086","source":"Crossref","is-referenced-by-count":5,"title":["A 590 kb deletion caused by non\u2010allelic homologous recombination between two LINE\u20101 elements in a patient with mesomelia\u2010synostosis syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Tomohiro","family":"Kohmoto","sequence":"first","affiliation":[{"name":"Department of Human Genetics Graduate School of Biomedical Sciences Tokushima University 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