Table 1.
GJA1 Mutations in ODDD
| Family/Case | Inheritancea | NucleotideChangeb | Amino AcidChangeb | Reference(s)c |
| FOD1118-4881 | F* | 50A>C | Y17S | Rajic and deVeber 1966; Boyadjiev et al. 1999 |
| FOD1120-1902 | F* | 52T>C | S18P | Zellweger and Ionasescu 1974; Zach 1975; Judisch et al. 1979 |
| FODMS2630 | S* | 61G>A | G21R | This report |
| FODHN2441 | S | 65G>A | G22E | Traboulsi and Parks 1990 |
| FOD1083-4795 | S | 68A>C | K23T | Gorlin et al. 1963 |
| FODCL2603 | S* | 119C>T | A40V | This report |
| FODJC1858 | F* | 145C>A | Q49K | Boyadjiev et al. 1999 |
| FODLM1899 | F | 154_156dupTTT | F52dup | Gellis and Feingold 1974; Weintraub et al. 1975 |
| FOD1113-4855 | F* | 226C>A | R76S | Stanislaw et al. 1998; Boyadjiev et al. 1999 |
| FOD1140-4922 | F* | 268C>G | L90V | Mohr 1939; Opjordsmoen and Nyberg-Hansen 1980; Boyadjiev et al. 1999 |
| FOD1119-4896 | F* | 293A>G | Y98C | Wooldridge et al. 1977; Wooldridge 1993; Boyadjiev et al. 1999 |
| FODBC36590 | F* | 306G>C | K102N | This report |
| FODRB2514 | F | 389T>C | I130T | This report |
| FODOK2770 | S | 400A>G | K134E | This report |
| FOD975-4595 | F* | 412G>C | G138R | Shapiro et al. 1997; Boyadjiev et al. 1999 |
| FODHB00-153-0388 | F* | 605G>A | R202H | This report |
| FODJS2375 | F | 646G>T | V216L | Norton et al. 1995; Boyadjiev et al. 1999 |
a
F = familial; S = sporadic. An asterisk (*) denotes that more than one sample was available to document, in multiplex families, segregation of the mutation or, in sporadic cases, the absence of the mutation in both parents.
b
Mutation nomenclature is according to den Dunnen and Antonarakis (2000).
c
References are for families previously reported with clinical description or who have participated in linkage studies.