Article
Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function.
Human molecular genetics - 21 Jul 2020
Cartwright James H, Aziz Qadeer, Harmer Stephen C, Thayyil Sudhin, Tinker Andrew, Munroe Patricia B
Abstract excerpt
Stillbirth is the loss of a fetus after 22 weeks of gestation, of which almost half go completely unexplained despite post-mortem. We recently sequenced 35 arrhythmia-associated genes from 70 unexplained stillbirth cases. Our hypothesis was that deleterious mutations in channelopathy genes may have a functional effect in utero that may be pro-arrhythmic in the developing fetus. We observed four heterozygous,...
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