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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Konigsmark Knox Hussels syndrome


Other Names for this Disease
  • Deafness optic atrophy syndrome
  • Dominant congenital deafness and progressive optic nerve atrophy
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Cause


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What causes Konigsmark Knox Hussels syndrome?

Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals.[1]
Last updated: 5/13/2011

References
  1. OPA1. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/gene/OPA1. Accessed 5/13/2011.