title: TGFBI gene mutations analysis in Chinese families with corneal dystrophies.
abstract: The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination. Sections of the cornea were used for biopsy following keratoplasty. Three types of TGFBI gene mutations, R124C, H626R and R124H, were detected in the patients from these three families. One family, with the R124C mutation, was diagnosed with lattice corneal dystrophy type 1, and the family with the H626R mutation was diagnosed with lattice corneal dystrophy type IIIB. The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2. The TGFBI gene mutations were considered underlying factors in the molecular mechanism underlying the pathogenesis of cornea dystrophy. Therefore, the detection of TGFBI gene mutations may be useful in the differential diagnosis of CD.
authors.affiliation: Xuzhou Eye Institute, The First People's Hospital of Xuzhou, Xuzhou, Jiangsu 221000, P.R. China.
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Wang
authors.affiliation: Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, P.R. China.
authors.forename: Ming
authors.initials: M
authors.lastname: Ying
authors.affiliation: Xuzhou Eye Institute, The First People's Hospital of Xuzhou, Xuzhou, Jiangsu 221000, P.R. China.
authors.forename: Changbo
authors.initials: C
authors.lastname: Fu
authors.affiliation: Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, P.R. China.
authors.forename: Yuchuan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, P.R. China.
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
chemical_list: D053773:Transforming Growth Factor beta1