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

ERDOĞAN Ç., Tekin S., Unluturk Z., Uyguner Z. O.

NORTHERN CLINICS OF ISTANBUL, cilt.8, sa.4, ss.398-401, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 4
  • Basım Tarihi: 2021
  • Doi Numarası: 10.14744/nci.2020.98852
  • Dergi Adı: NORTHERN CLINICS OF ISTANBUL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Central & Eastern European Academic Source (CEEAS), Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.398-401
  • Anahtar Kelimeler: Familial amyloid polyneuropathy, pGlu109Gln mutation, transthyretin, Turkish family
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.