Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene
Título del documento: Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene
Revista: Arquivos brasileiros de oftalmologia
Base de datos: PERIÓDICA
Número de sistema: 000290174
ISSN: 0004-2749
Autores: 1
2
3
4
5
Instituciones: 1Universidade de Sao Paulo, Faculdade de Medicina, Sao Paulo. Brasil
2Universidade de Sao Paulo, Hospital das Clinicas, Sao Paulo. Brasil
3Universidade de Sao Paulo, Faculdade de Medicina, Sao Paulo. Brasil
4Universidade de Sao Paulo, Faculdade de Medicina, Sao Paulo. Brasil
5Universidade de Sao Paulo, Faculdade de Medicina, Sao Paulo. Brasil
Año:
Periodo: May-Jun
Volumen: 69
Número: 3
Paginación: 289-297
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico, analítico
Resumen en inglés PURPOSE: To investigate the phenotype of primary open-angle glaucoma (POAG) in Brazilian families with mutation in exon 3 of TIGR/MYOC. METHODS: Seventy-eight POAG patients with a positive family history and eighteen unrelated patients with POAG were screened by automated DNA sequencing for mutations in exon 3 of the TIGR/MYOC gene. The pedigrees of POAG patients with mutations that lead to amino acid change were built. All available relatives of the index cases were also examined and genotyped by sequencing. RESULTS: Four sequence variants were identified in exon 3 of the TIGR/MYOC gene (Tyr347Tyr, Pro370Pro, Lys398Arg and Cys433Arg) from the 96 initially screened patients. The Lys398Arg mutation was previously described as a polymorphism and in our study did not segregate with POAG. The most prevalent mutation was Cys433Arg, affecting 3 index cases (3.1% or 3/96). In two different families, 8/56 subjects presented Cys433Arg mutation and had POAG, 5/56 had ocular hypertension and 8/56 had no disease manifestation. POAG patients had a median age at diagnosis of 43.25 yr (17-58 yr) and intraocular pressure (IOP) with a mean of 36.3 &plusmn; 3.8mmHg for the right eye and 37.6 &plusmn; 9.75 mmHg for the left eye. The group of patients with Cys433Arg mutation had significantly higher IOP (p<0.0007) and vertical cup/disc ratio when compared to the patients without mutation (p<0.023). CONCLUSIONS: Cys433Arg mutation in exon 3 of the TIGR/MYOC gene is related to juvenile-onset POAG (J-POAG) in Brazilian families and autosoma
Disciplinas: Medicina
Palabras clave: Oftalmología,
Genética,
Fenotipos,
Mutaciones,
Genes,
Catastro,
Glaucoma,
Brasil
Keyword: Medicine,
Ophthalmology,
Phenotypes,
Mutations,
Genes,
Screening,
Glaucoma,
Brazil,
Genetics
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