Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports

Uysal F., Turkgenc B., Toksoy G., Bostan O. M., Evke E., Uyguner O., ...Daha Fazla

BMC MEDICAL GENETICS, cilt.18, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1186/s12881-017-0474-8
  • Dergi Adı: BMC MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients.