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Article

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

International journal of molecular sciences - 19 Jul 2024

Deconte Desirée, Diniz Bruna Lixinski, Hartmann Jéssica K, de Souza Mateus A, Zottis Laira F F, Zen Paulo Ricardo Gazzola, Rosa Rafael F M, Fiegenbaum Marilu

Abstract excerpt

KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies' clinical features are often overlapped despite...

Topics

Humans
Eye Abnormalities
Kidney Diseases, Cystic
Abnormalities, Multiple
Retina
Cerebellum
Phenotype
Ciliopathies
Male
Mutation
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cell Cycle Proteins

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PMID: 39063141
DOI: 10.3390/ijms25147900
PMCID: PMC11277298

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-39063141-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.PMID 39063141Read ↗

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