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Article

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

PloS one - 1 Jan 2011

Benitez Bruno A, Alvarado David, Cai Yefei, Mayo Kevin, Chakraverty Sumitra, Norton Joanne, Morris John C, Sands Mark S, Goate Alison, Cruchaga Carlos

Abstract excerpt

We performed whole-exome sequencing in two autopsy-confirmed cases and an elderly unaffected control from a multigenerational family with autosomal dominant neuronal ceroid lipofuscinosis (ANCL). A novel single-nucleotide variation (c.344T>G) in the DNAJC5 gene was identified. Mutational screening in an independent family with autosomal dominant ANCL found an in-frame single codon deletion (c.346_348 delCTC)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22073189
DOI: 10.1371/journal.pone.0026741
PMCID: PMC3208569

Genes

DNAJC5

Variants

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