ArticleInternational journal of ophthalmology2011
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.
Article in International journal of ophthalmology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- Genetic analysis of TGFBI variants in the Taiwanese population: from granular corneal dystrophy type 1 to a broader phenotypic spectrum.American journal of translational research · 2026Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD).
methodsComplete 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.
resultsA 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.
conclusionMutation 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.
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