Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation
2006 | journal article. A publication with affiliation to the University of Göttingen.
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Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation
van Riesen, A. K. J.; Antonicka, H.; Ohlenbusch, A.; Shoubridge, E. A. & Wilichowski, E. (2006)
Neuropediatrics, 37(2) pp. 88-94. DOI: https://doi.org/10.1055/s-2006-924227
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- Authors
- van Riesen, A. K. J.; Antonicka, H.; Ohlenbusch, Andreas; Shoubridge, E. A.; Wilichowski, E.
- Abstract
- Cytochrome c okidase deficiency (COX) is the most frequent cause of Leigh syndrome (LS), a mitochondrial subacute necrotizing encephalomyelopathy. Most of these LSCOX- patients show mutations in SURF1 on chromosome 9 (9q34), which encodes a protein essential for the assembly of the COX complex. We describe a family whose first-born boy developed characteristic features of LS. Severe COX deficiency in muscle was caused by a novel homozygous nonsense mutation in SURF1. Segregation analysis of this mutation in the family was incompatible with autosomal recessive inheritence but consistent with a maternal disomy. Haplotype analysis of microsatellite markers confirmed isodisomy involving nearly the complete long arm of chromosome 9 (9q21-9tel). No additional physical abnormalities were present in the boy, suggesting that there are no imprinted genes on the long arm of chromosome 9 which are crucial for developmental processes. This case of segmental isodisomy illustrates that genotyping of parents is crucial for correct genetic counseling.
- Issue Date
- 2006
- Status
- published
- Publisher
- Georg Thieme Verlag Kg
- Journal
- Neuropediatrics
- ISSN
- 0174-304X