A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome

Makio Oka, K. Shimojima, T. Yamamoto, Yoshiyuki Hanaoka, Shuhei Sato, T. Yasuhara, Harumi Yoshinaga, Katsuhiro Kobayashi

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)739-743
Number of pages5
JournalClinical Genetics
Issue number6
Publication statusPublished - Jun 1 2016


  • Dandy-Walker malformation
  • HYLS1
  • Hydrolethalus syndrome
  • Joubert syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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