Ontology highlight
ABSTRACT:
SUBMITTER: Long PA
PROVIDER: S-EPMC6455043 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Human molecular genetics 20170801 15
Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in >50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole exome sequencing uncovered a novel molecular basis for idiopathic end-stage heart failure in two sisters who underwent cardiac transplantation at three years of age. Compound heterozygous recessive mutations in TAF1A, encoding an RNA polymerase I complex protei ...[more]