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Article

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

American journal of medical genetics. Part A - 1 Nov 2016

Piret Sian E, Gorvin Caroline M, Trinh Anne, Taylor John, Lise Stefano, Taylor Jenny C, Ebeling Peter R, Thakker Rajesh V

Abstract excerpt

The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequencing of one affected and one unaffected family member, followed by targeted analysis of known candidate genes to...

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Topics

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Share to Acidosis, Renal Tubular
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

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Source

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Identifiers

PMID: 27540713
DOI: 10.1002/ajmg.a.37755
PMCID: PMC5132132

Genes

CLCN7
CLC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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