JPH2 p.(Thr161Lys) is a Finnish founder mutation associating to hypertrophic cardiomyopathy with or without systolic heart failure and conduction abnormalities
November 30, 2018
The role of the JPH2 gene in cardiomyopathies has been obscure as only one rare variant segregating with any type of cardiomyopathy has been published (Sabater-Molina M et al., Clin Genet. 2016). This study characterizes the cardiac phenotype related to JPH2 c.482C>A, p.(Thr161Lys) variant in nine Finnish index patients and their family members.