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A. J. Aldave, V. Yellore, N. Bourla, A. Salem, S. Rayner, C. Krafchak, J. Richards; Posterior Polymorphous Corneal Dystrophy is Associated With TCF8 Gene Mutations in Approximately One-Quarter of Affected Families. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5849.
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To determine whether mutations in the two-handed zinc-finger homeodomain transcription factor gene (TCF8) are associated with the development of posterior polymorphous corneal dystrophy (PPCD).
Screening of TCF8 was performed in 32 affected, unrelated probands, as well as affected and unaffected family members of probands identified with a TCF8 mutation. Any identified sequence variants were screened for in 100 control individuals.
Pathogenic mutations were identified in 8 probands: 4 frameshift (c.953_954insA, c.1506dupA, c.1592delA, and c.3012_3013delAG); 3 nonsense (Gln12X, Gln214X, Arg325X); and 1 missense (Met1Arg). Screening of affected and unaffected family members in 5 families demonstrated that each identified mutation segregated with the disease phenotype in each family; 3 probands did not have additional family members available for analysis. None of the eight TCF8 mutations was identified in 200 control chromosomes.
TCF8 mutations are associated with posterior polymorphous corneal dystrophy in 25% of affected families.
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