title: TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.
abstract: OBJECTIVE
  To identify transforming growth factor beta-induced (TGFBI) gene mutations in four Chinese families affected by corneal dystrophies.
  
  
  METHODS
  In this study, three families (21 patients and 18 normal relatives), respectively, with Reis-Bücklers corneal dystrophy (RBCD), classic lattice corneal dystrophy (LCDI), and variant LCD (LCDI/IIIA) were assessed. All subjects underwent a complete ophthalmological evaluation, including biomicroscopic inspection and dilated fundus examination. As a control, 100 individuals without corneal disease were selected from the general population. Polymerase chain reaction (PCR) and direct sequencing were used to screen for mutations in TGFBI.
  
  
  RESULTS
  For the three families, a single heterozygous c.371G>T (R124L) point mutation was found in exon 4 of TGFBI in 14 affected members with RBCD, a single heterozygous c.370C>T (R124C) point mutation was found in exon 4 of TGFBI in four affected members with LCDI, and a single heterozygous c.1877A>G (H626R) point mutation was found in exon 14 of TGFBI in four affected members with LCDI/IIIA. TGFBI gene mutation had not been detected in the unaffected members and 100 normal controls.
  
  
  CONCLUSIONS
  TGFBI gene mutations were present in all three Chinese families with corneal dystrophy, and our study further verified the relationship between phenotype and genotype of corneal dystrophy.
authors.affiliation: 1 Department of Ophthalmology, The First Affiliated Hospital of Xi'an Jiao Tong University , Xi'an, Shanxi, China .|2 Department of Ophthalmology, The Second Affiliated Hospital of Wenzhou Medical University , Wenzhou, Zhejiang, China .
authors.forename: Jianqiu
authors.initials: J
authors.lastname: Cai
authors.affiliation: 3 Department of Ophthalmology, The First Affiliated Hospital of Wenzhou Medical University , Wenzhou, Zhejiang, China .
authors.forename: Leru
authors.initials: L
authors.lastname: Zhu
authors.affiliation: 2 Department of Ophthalmology, The Second Affiliated Hospital of Wenzhou Medical University , Wenzhou, Zhejiang, China .
authors.forename: Yi
authors.initials: Y
authors.lastname: Zha
authors.affiliation: 1 Department of Ophthalmology, The First Affiliated Hospital of Xi'an Jiao Tong University , Xi'an, Shanxi, China .
authors.forename: Qianyan
authors.initials: Q
authors.lastname: Kang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D053773:Transforming Growth Factor beta1 / Q000235:genetics* / Q000378:metabolism
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1