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Article

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

European journal of human genetics : EJHG - 1 Nov 2016

Smith Claire E L, Poulter James A, Levin Alex V, Capasso Jenina E, Price Susan, Ben-Yosef Tamar, Sharony Reuven, Newman William G, Shore Roger C, Brookes Steven J, Mighell Alan J, Inglehearn Chris F

Abstract excerpt

Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group of conditions consisting of craniofacial and neurological abnormalities,...

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Topics

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Share to Adenosine Triphosphatases
Share to Amelogenesis Imperfecta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATPases Associated with Diverse Cellular Activities

Share to Frameshift Mutation

Share to Hearing Loss, Sensorineural

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Source

Open in PubMed Open full text

Identifiers

PMID: 27302843
DOI: 10.1038/ejhg.2016.62
PMCID: PMC5026821

Genes

PEX6
PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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