Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene

C Costagliola; V Romano; F Cifariello; F Aceto; A Porcellini

doi:10.7471/CT.2014.1676

Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene

Clin Ter. 2014;165(1):e73-5. doi: 10.7471/CT.2014.1676.

Authors

C Costagliola¹, V Romano², F Cifariello¹, F Aceto¹, A Porcellini³

Affiliations

¹ Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy U.O.
² Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy; St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
³ Department of Structural and Functional Biology, University of Naples, Federico II, Naples, Italy.

PMID: 24589966
DOI: 10.7471/CT.2014.1676

Abstract

Phenotypic characteristics associated with mutations in the transforming growth factor beta-induced (TGFBI) gene in two twin sisters suffering from lattice corneal dystrophy are reported. Genomic DNA was extracted from peripheral blood and 3 new mutations in association with exons 11-12-14 of the TGFBI gene were found.

Publication types

Case Reports

MeSH terms

Corneal Dystrophies, Hereditary / genetics*
Exons
Extracellular Matrix Proteins / genetics*
Female
Humans
Middle Aged
Mutation
Siblings
Transforming Growth Factor beta / genetics*

Substances

Extracellular Matrix Proteins
Transforming Growth Factor beta
betaIG-H3 protein