title: TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.
abstract: OBJECTIVE
  To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD).
  
  
  METHODS
  Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database.
  
  
  RESULTS
  A single heterozygous G>A (R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members.
  
  
  CONCLUSIONS
  Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree.
authors.affiliation: Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
authors.forename: Ai-Rui
authors.initials: AR
authors.lastname: Xie
authors.forename: Su-Ping
authors.initials: SP
authors.lastname: Cai
authors.forename: Yin
authors.initials: Y
authors.lastname: Yang
authors.forename: Yin-Chuan
authors.initials: YC
authors.lastname: Fan
authors.forename: Wen-Han
authors.initials: WH
authors.lastname: Yu
authors.forename: Li-Heng
authors.initials: LH
authors.lastname: Guo
authors.forename: Qiao-Na
authors.initials: QN
authors.lastname: Yang
authors.forename: Jin
authors.initials: J
authors.lastname: Zhu
authors.forename: Xu-Yang
authors.initials: XY
authors.lastname: Liu