A dataset containing idiopathic DCM pedigrees with nonsegregating LMNA variants as well as other potentially relevant variants along with quantitative endophenotype measurements. Note that there were no twins in this data set.
lmna_nonseg
A data.table with 88 rows and 13 columns:
family_ID: Family ID
proband: 1 = Yes, 0 = No
individual_ID: Individual identifier (unique within family)
paternal_ID: Individual_ID of person's father
maternal_ID: Individual_ID of person's mother
sex: 1 = Male, 2 = Female
n_lmna_vars: # potentially relevant LMNA variants
n_oth_vars: # potentially relevant non-LMNA variants
grade: Phenotypic severity grade, 0 - 4 (see Cowan et al. 2018 reference)
age_echo_yrs: Age at diagnostic echo, in years
lvedd_z: Left ventricular end-diastolic dimension z-score (standardized for height and sex)
lvef: Left ventricular ejection fraction, \
mzpair: Same value for individuals who are MZ twins; NA
otherwise
dzpair: Same value for individuals who are DZ twins; NA
otherwise
Cowan JR, Kinnamon DD, Morales A, Salyer L, Nickerson DA, Hershberger RE. Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees. Circ Genom Precis Med. 2018 Jul;11(7):e002038. https://doi.org/10.1161/CIRCGEN.117.002038