title: A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
abstract: The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life. The proband has Joubert syndrome (JS). The younger brother also has JS and an enlarged posterior fossa that was initially diagnosed as Dandy-Walker malformation. The present mutation is unique as it affects the stop codon. The product protein HYLS1 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.
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Oka
authors.affiliation: Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.|Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Hanaoka
authors.affiliation: Department of Radiology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.affiliation: Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yasuhara
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yoshinaga
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D003241:Consanguinity; D059472:Exome / Q000235:genetics; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: C505472:HYLS1 protein, human; D011506:Proteins
keywords: Dandy-Walker malformation; HYLS1; Joubert syndrome; hydrolethalus syndrome