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Article

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Journal of medical genetics - 1 Apr 2019

Pauli Silke, Altmüller Janine, Schröder Simone, Ohlenbusch Andreas, Dreha-Kulaczewski Steffi, Bergmann Carsten, Nürnberg Peter, Thiele Holger, Li Yun, Wollnik Bernd, Brockmann Knut

Abstract excerpt

BACKGROUND: Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous mutations in the KIAA0586 gene on chromosome 14q23 are known to be associated with JBTS-23. The frameshift variant c.428delG is the most frequent KIAA0586 variant reported in JBTS-23; yet, homozygosity of this variant was observed in two...

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Identifiers

PMID: 30120217
DOI: 10.1136/jmedgenet-2018-105470

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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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