Skip to main content

Table 4 General information on candidate genes selected for mutation screening.

From: Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Gene symbol Genomic size No. of exons Flanking markers Function and Expression Variants detected
ITGA8 0.20 Mb 30 D10S1477, D10S191 The product of this gene is a cell surface glycoprotein involved in cell-to-cell adhesion. ITGA8 plays a major role in the integrin-mediated signalling pathway. It is expressed in skeletal muscle, fetal heart, and liposarcoma. 133C>A base change in exon 17 resulting in Q276P amino acid change.
Two intronic changes: IVS13 -38C>T and IVS18 +40A>G
FRMD4A 0.69 Mb 25 D10S1664, D10S2325 This gene encodes for a hypothetical cytoskeletal protein binding molecule that is concentrated in the undercoat of the cell-to-cell adherens junction and has similarity to the ERM proteins which are plasma membrane-actin filament cross linkers. Expression is increased in hepatic adenoma and squamous epithelium. CA variable number tandem repeat (VNTR) polymorphism in exon 1 of the splice variant.
LAMR1P6 0.884 Kb 1 D10S600, D10S509 There is no information currently available on expression and function of this pseudogene. 346G>A base change.
  1. Note: Echo, echocardiography; ECG, electrocardiogram; EPS, electrophysiological study; F, female; LBBB, left bundle branch block; M, male; MRI, magnetic resonance imaging; RV, right ventricle; VT, ventricular tachycardia; PVCs, premature ventricular complexes.