title: TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.
abstract: This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive family history. Clinical GCD outpatients and consanguineous family members were enrolled in this study. Among total 42 subjects: 24 patients from 23 unrelated families had typical signs of GCD on corneas; 5 patients from 5 unrelated families had atypical signs; 13 subjects from 11 unrelated families had no corneal signs but positive family history. Using Avellino gene test kit, the TGFBI mutation detection was performed on DNA samples from all subjects. 36 subjects were detected to carry heterozygous TGFBI gene mutations. Among 24 clinical GCD patients, the proportion of R124H, R555Q, R124L, R555W and R124C were 37.5%, 16.7%, 25.0%, 20.8% and 0%, respectively, and 2 patients had been diagnosed with GCD according to the opacities thriving after LASIK (R124H) and PRK (R555W). The mutation rate of 13 subjects having no signs but positive family history was 69.2%. R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. It is recommended to conduct gene detection for patients with positive family history prior to refractive surgeries.
authors.affiliation: Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China.
authors.forename: Li
authors.initials: L
authors.lastname: Zeng
authors.affiliation: Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhao
authors.affiliation: Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China.
authors.forename: Yingjun
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhao
authors.affiliation: Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China.
authors.forename: Meiyan
authors.initials: M
authors.lastname: Li
authors.affiliation: Ulster University, Northern Ireland, UK.
authors.forename: Connie
authors.initials: C
authors.lastname: Chao-Shern
authors.affiliation: Ulster University, Northern Ireland, UK.
authors.forename: Tara
authors.initials: T
authors.lastname: Moore
authors.affiliation: University College London, London, UK.
authors.forename: John
authors.initials: J
authors.lastname: Marshall
authors.affiliation: Eye and ENT Hospital of Fudan University, Myopia Key Laboratory of China Health Ministry, Shanghai, China. doctzhouxingtao@163.com.
authors.forename: Xingtao
authors.identifier: http://orcid.org/0000-0002-3465-1579
authors.initials: X
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D018903:Photorefractive Keratectomy; D010865:Pilot Projects; D016212:Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein