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

• Published in: Journal of molecular medicine (Berlin, Germany) Vol. 85; no. 2; pp. 163 - 168
• Main Authors: Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon, Schuelke, Markus
• Format: Journal Article
• Language: English
• Published: New York Springer Nature B.V 01.02.2007

We report on the clinical, molecular and biochemical findings of a patient with the rare event (<4.02 × 10-9 per generation) of coinciding de novo mutations in the nuclear PAX6 (c.1252-1267del16) and the mitochondrial mt.RNA Lys (8347A[arrow right]G) genes. The boy suffers from exercise intoleran...