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