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Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects
Author(s) -
Laitinen Päivi,
Fodstad Heidi,
Piippo Kirsi,
Swan Heikki,
Toivonen Lauri,
Viitasalo Matti,
Kaprio Jaakko,
Kontula Kimmo
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200006)15:6<580::aid-humu16>3.0.co;2-0
Subject(s) - herg , biology , genetics , coding region , gene , long qt syndrome , phenotype , allele , hum , mutation , qt interval , microbiology and biotechnology , potassium channel , endocrinology , medicine , art , performance art , art history
Analysis of the entire coding region of the HERG gene of 39 Finnish LQTS patients revealed eight mutations, six of which are hitherto unreported. All these mutations are located in the evolutionarily conserved regions of HERG, including the transmembrane domains (P451L, Y569H, 1631delAG, G584S, G601S, T613M) and the cytoplasmic N‐terminus (453delC, R176W) of the channel. Our present and earlier results suggest that the LQT2 subtype accounts for approximately 20‐30% of LQTS cases in Finland. We also report the first common amino acid polymorphism (K897T) of the HERG channel, with allele frequencies of 0.84 and 0.16. Investigation of 170 genetically homogenous LQT1 patients suggests that this polymorphism may influence QT interval in female individuals. Hum Mutat 15:580–581, 2000. © 2000 Wiley‐Liss, Inc.