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Article

Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome.

The Journal of cell biology - 7 Apr 2025

Curinha Ana, Huang Zhaoyu, Anglen Taylor, Strong Margaret A, Gliech Colin R, Jewett Cayla E, Friskes Anoek, Phan Thao P, Nicholas Zachary, Holland Andrew J

Abstract excerpt

Hydrolethalus syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1. How HYLS1 controls centriole function is poorly understood. Here, we show that mice harboring the HYLS1 disease mutation die shortly after birth and exhibit developmental defects that recapitulate several manifestations of HLS. These phenotypes arise from a loss of centriole...

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Source

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Identifiers

PMID: 40009365
DOI: 10.1083/jcb.202403022
PMCID: PMC11864076

Genes

HYLS1
CEP120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome.PMID 40009365Read ↗

Centriole structural integrity defects are a crucial feature of Hydrolethalus SyndromeSemantic proximity Read ↗

The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation.Semantic proximity Read ↗

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Semantic proximity Read ↗

CCDC15 localizes to the centriole inner scaffold and regulates centriole integrity and ciliogenesisSemantic proximity Read ↗

A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.Semantic proximity Read ↗

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.Semantic proximity Read ↗

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.Semantic proximity Read ↗

Sub-centrosomal mapping identifies augmin-γTuRC as part of a centriole-stabilizing scaffoldSemantic proximity Read ↗

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary CiliaSemantic proximity Read ↗

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.Semantic proximity Read ↗

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.Semantic proximity Read ↗

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