Artikel
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine
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Autoren
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V. M. Pampukha
- Institute of Molecular Biology and Genetics National Academy of Science of Ukraine
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G. I. Drozhyna
- The Filatov Institute of Eye Diseases and Tissue Therapy Academy of Medical Science of Ukraine
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L. A. Livshits
- Institute of Molecular Biology and Genetics National Academy of Science of Ukraine
| Veröffentlicht: | 18. September 2006 |
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Gliederung
Text
Objective
Mutations in TGFBI gene cause for the group of autosomal dominant diseases of the cornea: granular (Groenouw type I), lattice type I, lattice type 3A, Thiele-Benke, Reis-Bucklers and Avellino corneal dystrophies.
Methods
In our study six previously reported mutations of the TGFBI gene: R124C, R124H, R124L (exon 4), R555W, R555Q, A546T (exon 12) were analyzed using polymerase chain reaction followed by restriction digestion in 114 individuals from 41 unrelated families with different forms of corneal dystrophy.
Results
The R555W mutation was detected in patients from 5/10 families with suspected clinical diagnosis of granular corneal dystrophy. The R124C mutation was detected in unaffected 10-year old individual, in patients from 15/21 families with lattice corneal dystrophy, and in patient with clinical diagnosed Reis-Bucklers corneal dystrophy. R555Q mutations was detected in patient with clinical diagnosed Reis-Bucklers. As far as R124C mutation associeted with lattice corneal dystrophy and R555Q mutation associeted with Thiele-Benke corneal dystrophy we have concluded that this patients were misdiagnosed. A546T mutation was not detected in any patients from 8 families with lattice corneal dystrophy type 3A.
Conclusions
These results show that TGFBI gene mutations analysis is important for differential diagnosis of corneal dystrophies and genetic consulting in high risk families.
