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

Clinical genetics - 1 Oct 2021

Ghesh Leïla, Musquer Marie Denis, Devisme Louise, Stichelbout Morgane, Boutaud Lucile, Elkhartoufi Nadia, Vaast Pascal, Boute Odile, Riteau Anne-Sophie, Le Vaillant Claudine, Winer Norbert, Joubert Madeleine, Bezieau Stéphane, Thomas Sophie, Attie-Bitach Tania, Beneteau Claire

Abstract excerpt

Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. No other HYLS1 variant has hitherto been implicated in HLS. We report two unrelated French fetuses presenting with a phenotype of HLS with brain abnormalities, limbs malformations with pre and...

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Identifiers

PMID: 34212369
DOI: 10.1111/cge.14021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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