Danish type gelsolin-related amyloidosis in a Brazilian family: case reports

Arquivos Brasileiros de Oftalmologia

Helena Parente Solari²  Marcelo Palis Ventura²  Emilia Antecka¹  Rubens Belfort Junior¹  Miguel Noel Burnier Jr¹ 

[1] ,Universidade Federal FluminenseNiterói RJ ,Brazil

关键词: Amyloidosis;    Gelsolin;    Corneal dystrophies;    hereditary;    Cornea;    Humans;    Female;    Male;    Adult;    Case reports;    Amiloidose;    Gelsolina;    Distrofia hereditária da córnea;    Córnea;    Humano;    Feminino;    Masculino;    Adulto;    Relato de casos;   

DOI  :  10.1590/S0004-27492011000400012

来源: SciELO

【 摘 要 】

Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene. The Danish-subtype of FAF has been previously described in three families, the patients present clinical findings similar to FAF, and the mutation 654G-T in the gelsolin gene. Three members from two generations of the same family, with familial amyloidosis, were screened for mutations in the GSN gene. Genomic DNA was extracted from peripheral blood lymphocytes and the polymerase chain reaction (PCR) was carried out under standard conditions, using appropriate primers. Sequence analysis showed the presence of a G to T transition at nucleotide 654 of the gelsolin gene. This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type).

【 授权许可】

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