Table 1

Phenotype-genotype correlation

MutationSiteNo of genotype positiveAV blockSinus venosusSecundumUnknownCono-ventricularMuscularTV abnorm-alityMV abnorm-alityHetero-taxiaReference
*The numbering 215-221 in the deletion mutation corresponds to 324-330 in the numbering system by Benson et al.1
†Ebstein’s anomaly.
‡One of the affected members, whose genotype was not available, had mitral valve fenestrations.
This table was modified from the table by Benson et al.1
215-221-delAGCTGGG*5′ coding region5431200011This report
C182T, Arg25Cys5′ coding region110001(TOF)0000 1
IVS1DS+1, G-TSplice site1100000000 1
C554, Gln149terHomeodomain650401(TOF)2000 1
C618T, Gln170terHomeodomain4402000000 2
C642T, Thr178MetHomeodomain1212011000000 2
C673A, Asn188LysHomeodomain55050003†00 1
C674G, Arg189GlyHomeodomain5504000100 1
A681G, Tyr191CysHomeodomain1101010000 1
C701T, Gln198ter3′ coding region440310000‡02, Hosoda et al (1999)
C886A, Tyr259ter3′ coding region7706021000 1