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Article

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.

Journal of human genetics - 1 Jan 2025

Kuroda Yukiko, Ikegawa Tamaki, Kato Ayumi, Aida Noriko, Naruto Takuya, Kurosawa Kenji

Abstract excerpt

TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis. Biallelic TXNDC15 variants have been reported in six individuals of Meckel syndrome (MKS) with perinatal lethal phenotypes, but have not been reported in patients with Joubert syndrome (JS). Here, we describe a 1-year-old female patient with compound heterozygous TXNDC15 variants...

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PMID: 39304719
DOI: 10.1038/s10038-024-01290-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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