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Genetic analysis of 36 individuals from 14 families identified eight different UBIAD1 mutations; five of these were novel D118G, L121F, S171P, G186R and D236E. Three previously reported mutations N102S, G17R and T175I were also found. The N102S mutation was suggested to be a mutation hotspot because of its frequency. No correlation was identified except for possibly the T175I mutation, which demonstrated diffuse corneal haze, typically without corneal crystals
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Weiss JS, Kruth HS, Kuivaniemi H, et al. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet A 2008; 146:271-283. Genetic analysis of 36 individuals from 14 families identified eight different UBIAD1 mutations; five of these were novel D118G, L121F, S171P, G186R and D236E. Three previously reported mutations N102S, G17R and T175I were also found. The N102S mutation was suggested to be a mutation hotspot because of its frequency. No correlation was identified except for possibly the T175I mutation, which demonstrated diffuse corneal haze, typically without corneal crystals.
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