Brinckmann, Anja and Ruether, Klaus and Williamson, Kathleen and Lorenz, Birgit and Lucke, Barbara and Nuernberg, Peter and Trijbels, Frans and Janssen, Antoon and Schuelke, Markus (2007) De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. JOURNAL OF MOLECULAR MEDICINE-JMM, 85 (2). pp. 163-168. ISSN 0946-2716,
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DNA; POLYMORPHISM; HUMANS; GENE; mtDNA; heteroplasmy; PAX6; ptosis; nystagmus; pyrosequencing |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 22 Dec 2020 12:49 |
| Last Modified: | 22 Dec 2020 12:49 |
| URI: | https://pred.uni-regensburg.de/id/eprint/33248 |
Actions (login required)
 |
View Item |
