Phenotype reveals genotype in a Greek long QT syndrome family

Anastasakis A., Kotta C., Kyriakogonas S., Wollnik B., Theopistou A., Stefanadis C.

EUROPACE, cilt.8, sa.4, ss.241-244, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 4
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1093/europace/eul012
  • Dergi Adı: EUROPACE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.241-244
  • İstanbul Üniversitesi Adresli: Hayır

Özet

We aimed to verify the tong QT syndrome (LQTS) genotype in a family with strong evidence of LQTS type 1 (LQT1) on the basis of so far established genotype-phenotype correlations. Genetic testing for mutations in the KCNQ1 potassium channel gene revealed an A341V mutation in three generations of the family. Existing genotype-phenotype correlations were correctly predictive of the genotype in the case of this family, despite the fact that there are no previously reported data for the Greek LQTS genetic pool. Thus, genotype-phenotype correlations are often a helpful tool in the management of LQTS patients and their families.