Skip to main content

Table 3 ITGB1BP2 nucleotide variations identified in this study

From: Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients

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

  1. * HDCOC: Hypertension Diagnosis and Care Outpatient Clinic of the Federico II University, Naples, Italy.
  2. $DHZB: German Heart Institute, Berlin, Germany.
  3. M = male
  4. F = female