Whole-Exome Sequencing Reveals GATA4 and PTEN Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction

Circ Genom Precis Med. 2018 Jan;11(1):e001966. doi: 10.1161/CIRCGEN.117.001966.

Authors

Vi T Tang¹, Patricia Arscott¹, Adam S Helms¹, Sharlene M Day²

Affiliations

¹ From the Departments of Molecular and Integrative Physiology (V.T.T., S.M.D.) and Internal Medicine (P.A., A.S.H., S.M.D.), University of Michigan, Ann Arbor.
² From the Departments of Molecular and Integrative Physiology (V.T.T., S.M.D.) and Internal Medicine (P.A., A.S.H., S.M.D.), University of Michigan, Ann Arbor. sday@umich.edu.

PMID: 29874181
DOI: 10.1161/CIRCGEN.117.001966

No abstract available

Keywords: cardiomyopathies; exome; magnetic resonance imaging; mutation; nuclear localization signals.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Atrial Natriuretic Factor / genetics
Cell Nucleus / metabolism
DNA Mutational Analysis
Exome Sequencing
GATA4 Transcription Factor / chemistry
GATA4 Transcription Factor / genetics*
GATA4 Transcription Factor / metabolism
HEK293 Cells
Heart Defects, Congenital / diagnosis*
Heart Defects, Congenital / genetics
Humans
Male
Middle Aged
PTEN Phosphohydrolase / chemistry
PTEN Phosphohydrolase / genetics*
PTEN Phosphohydrolase / metabolism
Pedigree
Ultrasonography
Young Adult

Substances

GATA4 Transcription Factor
GATA4 protein, human
Atrial Natriuretic Factor
PTEN Phosphohydrolase
PTEN protein, human