ISSN: 2148-4902 | E-ISSN: 2536-4553
Northern Clinics of Istanbul Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family [North Clin Istanb]
North Clin Istanb. 2021; 8(4): 398-401 | DOI: 10.14744/nci.2020.98852

Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family

Cagdas Erdogan1, Selma Tekin1, Zeynep Unluturk1, Zehra Oya Uyguner2
1Department of Neurology, Pamukkale University Faculty of Medicine, Denizli, Turkey
2Department of Genetics, Istanbul University Faculty of Medicine, Istanbul, Turkey

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.

Keywords: Familial amyloid polyneuropathy, pGlu109Gln mutation; transthyretin; Turkish family.

Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family

Cagdas Erdogan1, Selma Tekin1, Zeynep Unluturk1, Zehra Oya Uyguner2
1Pamukkale Üniversitesi Tıp Fakültesi Nöroloji Anabilim Dalı, Denizli
2İstanbul Üniversitesi Tıp Fakültesi, Genetik Anabilim Dalı, İstanbul

Transtiretin ilişkili ailesel amiloid polinöropati, transtiretin protein gen mutasyonuna bağlı otozomal dominant geçişli, nadir, ancak hayatı tehdit eden bir hastalıktır. Daha önce Türkiye’de p.Glu 109Gln (eski adıyla p.Glu89Gln) mutasyonunu da içeren farklı mutasyonlara sahip 26 hasta tanımlanmıştır.
Biz de bu yazımızda aynı aileden olan ve aynı p.Glu109Gln mutasyonuna sahip ancak farklı fenotipleri olan iki vakayı sunduk. Bir hastada klinik tablo polinöropati ile ilişkiliyken diğer hastada kardiyak problemler ön plandaydı.
Bu olgu sunumu TTR-FAP'nin aynı ailede bile aynı mutasyona bağlı olarak farklı klinik fenotiplere neden olabileceğinden bahsetmektedir. (NCI-2019-0142.R1)

Anahtar Kelimeler: Transtiretin, ailesel amiloid polinöropatisi, pGlu109Gln mutasyonu, Türk ailesi

Cagdas Erdogan, Selma Tekin, Zeynep Unluturk, Zehra Oya Uyguner. Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family. North Clin Istanb. 2021; 8(4): 398-401

Corresponding Author: Selma Tekin
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