A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
Korean Journal of Ophthalmology
;
: 83-85, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-143096
ABSTRACT
An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction, showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-beta-induced TGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, along with the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with an L527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from a single Japanese ancestor.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
DNA
/
Análise Mutacional de DNA
/
Distrofias Hereditárias da Córnea
/
Reação em Cadeia da Polimerase
/
Proteínas da Matriz Extracelular
/
Fator de Crescimento Transformador beta
/
Mutação
Limite:
Idoso
/
Aged80
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Korean Journal of Ophthalmology
Ano de publicação:
2014
Tipo de documento:
Artigo
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