Open AccessDifferent phenotypes of transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) due to a mutation in p.Glu109Gln in members of the same family
Author(s) -
Çağdaş Erdoǧan,
Selma Tekin,
Zeynep Ünlütürk,
Zehra Oya Uyguner
Publication year - 2020
Publication title -
i̇stanbul kuzey klinikleri
Language(s) - English
Resource type - Journals
ISSN - 2148-4902
DOI - 10.14744/nci.2020.98852
Subject(s) - transthyretin , amyloid polyneuropathy , mutation , phenotype , polyneuropathy , medicine , amyloidosis , genetics , amyloid (mycology) , clinical phenotype , disease , gene , pathology , biology , age of onset
Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is an unusual but life-threatening disease that is autosomal dominant inherited and involves the mutation of the transthyretin (TTR) gene. A total of 26 patients with TTR-FAP and different mutations, including the p.Glu 109Gln mutation (previously annotated p. Glu89Gln), were previously reported in Turkey. Herein, we reported two patients from the same family who had the same p.Glu 109Gln mutation but had different clinical phenotypes. The clinical picture mainly involved polyneuropathy in one patient and cardiac involvement in the other patient. This case report mentions that TTR-FAP can cause different clinical phenotypes, even due to the same mutation and even in the same family.