{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T09:37:16Z","timestamp":1775554636563,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T00:00:00Z","timestamp":1522972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"C17 Research Network"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>ERCC6L2\u2010<\/jats:italic>associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by summarizing the five published cases and an additional case that we identified through whole\u2010exome sequencing performed at the University of Toronto.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data was extracted from the Canadian Inherited Marrow Failure Registry. Whole exome sequencing was performed to identify causative mutations<jats:bold>.<\/jats:bold><\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All six cases had homozygous truncating mutations either at or upstream of the helicase domain of <jats:italic>ERCC6L2<\/jats:italic>. All patients displayed bone marrow failure, learning or developmental delay and microcephaly. Our patient was unique in displaying features of cerebellar disease, including ataxia and dysmetria as well as an interval deterioration of the corpus callosum and generalized volume loss on MRI. Another unique feature of our patient was retinal dystrophy with macular involvement. Along with one other patient, our patient displayed craniofacial abnormalities by presenting with low\u2010set prominent ears, a pointed prominent chin, and deep\u2010set eyes. Leukemia is common among patients with inherited bone\u00a0marrow failure, but thus far, none of the patients have developed this complication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>ERCC6L2\u2010<\/jats:italic>associated disorder is a multisystem disorder. The phenotype spectrum includes bone marrow failure, cerebral, and craniofacial abnormalities, as well as cerebellar and retinal abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.388","type":"journal-article","created":{"date-parts":[[2018,4,10]],"date-time":"2018-04-10T06:34:50Z","timestamp":1523342090000},"page":"463-468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["<i>ERCC6L2<\/i>\u2010associated inherited bone marrow failure syndrome"],"prefix":"10.1002","volume":"6","author":[{"given":"Iren","family":"Shabanova","sequence":"first","affiliation":[{"name":"Genetics and Genome Biology Program The Hospital for Sick Children Toronto ON Canada"},{"name":"Marrow Failure and Myelodysplasia Program Division of Hematology\/Oncology Department of Pediatrics The Hospital for Sick Children Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Cohen","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program The Hospital for Sick Children Toronto ON Canada"},{"name":"Marrow Failure and Myelodysplasia Program Division of Hematology\/Oncology Department of Pediatrics The Hospital for Sick Children Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Cada","sequence":"additional","affiliation":[{"name":"Marrow Failure and Myelodysplasia Program Division of Hematology\/Oncology Department of Pediatrics The Hospital for Sick Children Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajoy","family":"Vincent","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences The Hospital for Sick Children Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald D.","family":"Cohn","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Paediatrics The Hospital for Sick Children Toronto ON Canada"},{"name":"Department of Molecular Genetics The Hospital for Sick Children Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3953-1477","authenticated-orcid":false,"given":"Yigal","family":"Dror","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program The Hospital for Sick Children Toronto ON Canada"},{"name":"Marrow Failure and Myelodysplasia Program Division of Hematology\/Oncology Department of Pediatrics The Hospital for Sick Children Toronto ON Canada"},{"name":"Institute of Medical Sciences University of Toronto Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,4,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-08-735431"},{"key":"e_1_2_6_3_1","first-page":"350","volume-title":"Hoffman's Textbook of Hematology: Principles and Practice","author":"Dror Y","year":"2017"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl295"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13125"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2005.01.004"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.004"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20151183"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.388","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.388","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T15:29:28Z","timestamp":1695396568000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,6]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1002\/mgg3.388"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.388","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,6]]},"assertion":[{"value":"2017-11-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-02-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}