A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.

doi:10.1111/cge.12752

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Article

A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.

Clinical genetics - 1 Jun 2016

Oka M, Shimojima K, Yamamoto T, Hanaoka Y, Sato S, Yasuhara T, Yoshinaga H, Kobayashi K

Abstract excerpt

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...

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PMID: 26830932
DOI: 10.1111/cge.12752

Genes

HYLS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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