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We report living sibling patients with a homozygous no\u2010stop mutation in exon 4 of <jats:italic><jats:styled-content style=\"fixed-case\">HYLS1<\/jats:styled-content><\/jats:italic>, NM_145014.2:c.<jats:styled-content style=\"fixed-case\">900A<\/jats:styled-content>&gt;C (p.<jats:styled-content style=\"fixed-case\">Ter300TyrextTer11<\/jats:styled-content>) in the second decade of life. The proband has Joubert syndrome (<jats:styled-content style=\"fixed-case\">JS<\/jats:styled-content>). The younger brother also has <jats:styled-content style=\"fixed-case\">JS<\/jats:styled-content> and an enlarged posterior fossa that was initially diagnosed as Dandy\u2013Walker malformation. The present mutation is unique as it affects the stop codon. The product protein <jats:styled-content style=\"fixed-case\">HYLS1<\/jats:styled-content> plays an essential role in the formation of the primary cilium. This report provides insight into the spectrum of disorders involving midline brain defects closely related to cilium dysfunction or ciliopathy.<\/jats:p>","DOI":"10.1111\/cge.12752","type":"journal-article","created":{"date-parts":[[2016,2,2]],"date-time":"2016-02-02T07:36:42Z","timestamp":1454398602000},"page":"739-743","source":"Crossref","is-referenced-by-count":15,"title":["A novel <i><scp>HYLS1<\/scp><\/i> homozygous mutation in living siblings with Joubert syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"M.","family":"Oka","sequence":"first","affiliation":[{"name":"Department of Child Neurology Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital  Okayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University  Tokyo 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