Table 3.
ITGB1BP2 nucleotide variations identified in this study
| Patient/sex and origin | Diagnosis | Mutation | Mutation status | Mutation details |
|---|---|---|---|---|
| #1/M HDCOC* |
Hypertensive individuals with eccentric left ventricle remodeling | 843 C>T Silent mutation |
Hemizygosis | In exon 11, 8 bp downstream an exonic splicing enhancer - ESE - consensus sequence |
| #2/F HDCOC* |
Hypertensive individuals with eccentric left ventricle remodeling | IVS6+12_18dupTTTTGAG intronic |
Heterozygosis | In intron 6 near the 5'donor splice site (10 bp downstream) |
| #3/F DHZB$ |
Hypertrophic cardiomyopathy (HCM) | 37 C>T Missense mutation |
Heterozygosis | In exon 1, causes a His13Tyr substitution in the CHORD domain |
* HDCOC: Hypertension Diagnosis and Care Outpatient Clinic of the Federico II University, Naples, Italy.
$DHZB: German Heart Institute, Berlin, Germany.
M = male
F = female