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Article

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Clinical genetics - 1 Jun 2013

Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky R I, Andermann F, Faught E, Leonberg S, Damiano J A, Berkovic S F, Rouleau G A, Cossette P

Abstract excerpt

We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify mutations in DNAJC5 in a total of three families. We analyzed the clinical manifestations in 20 individuals with mutation in DNAJC5. We report here the mapping and the...

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Identifiers

PMID: 22978711
DOI: 10.1111/cge.12020

Genes

DNAJC5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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