Zusammenfassung
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 ...
Zusammenfassung
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 mutation is predicted to cause haploinsufficiency. The novel mt.RNA(Lys) mutation is located close to the classic myoclonic epilepsy with ragged-red-fibers mutation, but the patient exhibits neither myoclonic epilepsy nor ragged-red-fibers. The degree of mutant mtDNA heteroplasmy, as determined by a very accurate pyrosequencing assay, varies between 31% ( muscle) and 38% ( fibroblasts). We discuss a potential effect of the PAX6 mutation on the mtDNA mutation rate.
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