OBJECTIVE: To study the disease gene in a family with hereditary vitreous amyloidosis. METHODS: A family with hereditary vitreous amyloidosis was investigated. Blood samples were collected from 4 members of this family including 3 patients and 1 asymptomatic individual. Genomic DNA was extracted from peripheral blood sample and subjected to amplification of 4 exons of transthyretin (TTR) gene. The PCR products were purified and subjected to direct sequencing. A total of 150 unrelated individuals were used as controls. RESULTS: A heterozygous mutation G to C at codon 103 in exon 3 of TTR gene (Gly103Arg) was detected in all 4 members of the family but not in the unrelated controls. CONCLUSION: The heterozygous Gly103Arg mutation of TTR gene may be related to the development of hereditary vitreous amyloidosis in this family.
OBJECTIVE: To study the disease gene in a family with hereditary vitreous amyloidosis. METHODS: A family with hereditary vitreous amyloidosis was investigated. Blood samples were collected from 4 members of this family including 3 patients and 1 asymptomatic individual. Genomic DNA was extracted from peripheral blood sample and subjected to amplification of 4 exons of transthyretin (TTR) gene. The PCR products were purified and subjected to direct sequencing. A total of 150 unrelated individuals were used as controls. RESULTS: A heterozygous mutation G to C at codon 103 in exon 3 of TTR gene (Gly103Arg) was detected in all 4 members of the family but not in the unrelated controls. CONCLUSION: The heterozygous Gly103Arg mutation of TTR gene may be related to the development of hereditary vitreous amyloidosis in this family.
Authors: Angelo Maria Minnella; Roberta Rissotto; Elena Antoniazzi; Marco Di Girolamo; Marco Luigetti; Martina Maceroni; Daniela Bacherini; Benedetto Falsini; Stanislao Rizzo; Laura Obici Journal: Genes (Basel) Date: 2021-06-22 Impact factor: 4.096