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Article

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.

Journal of molecular medicine (Berlin, Germany) - 1 Feb 2007

Brinckmann Anja, Rüther Klaus, Williamson Kathleen, Lorenz Birgit, Lucke Barbara, Nürnberg Peter, Trijbels Frans, Janssen Antoon, Schuelke Markus

Abstract excerpt

We report on the clinical, molecular and biochemical findings of a patient with the rare event (<4.02 x 10(-9) per generation) of coinciding de novo mutations in the nuclear PAX6 (c.1252-1267del16) and the mitochondrial mt.RNA (Lys) (8347A-->G) genes. The boy suffers from exercise intolerance, ptosis, nystagmus, macular hypoplasia and anterior segment abnormalities evocative of Axenfeld-Rieger anomaly. The PAX6...

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Source

Identifiers

PMID: 17031679
DOI: 10.1007/s00109-006-0112-y

Genes

PAX6

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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