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Article

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

Journal of inherited metabolic disease - 1 Mar 2015

Kanabus Marta, Shahni Rojeen, Saldanha José W, Murphy Elaine, Plagnol Vincent, Hoff William Van't, Heales Simon, Rahman Shamima

Abstract excerpt

Whole exome sequencing was used to investigate the genetic cause of mitochondrial disease in two siblings with a syndrome of congenital lamellar cataracts associated with nephrocalcinosis, medullary cysts and 3-methylglutaconic aciduria. Autosomal recessive inheritance in a gene encoding a mitochondrially targeted protein was assumed; the only variants which satisfied these criteria were c.1882C>T (p.Arg628Cys)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Kidney Diseases, Cystic

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Source

Identifiers

PMID: 25595726
DOI: 10.1007/s10545-015-9813-0

Genes

CLPB
SERAC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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