Table 1.
Summary of patients’ genotypes and demographics
| Patient ID | ATF6 mutation, nucleotide level | ATF6 alteration, protein level or consequence | Ancestry, age, sex |
|---|---|---|---|
| CHRO282-II:1 | c.82+5G>T homozygous | Splice defect (p.Asp28Glyfs*36)a | South Tyrolean, 42, M |
| CHRO628-II:2 | c.970C>T homozygous | p.Arg324Cys | Irish, 19, M |
| CHRO628-II:4 | c.970C>T homozygous | p.Arg324Cys | Irish, 16, F |
| CHRO628-II:6 | c.970C>T homozygous | p.Arg324Cys | Irish, 9, F |
| CHRO91-II:1 | c.970C>T homozygous | p.Arg324Cys | British, 47, F |
| CHRO91-II:2 | c.970C>T homozygous | p.Arg324Cys | British, 45, F |
| CHRO91-II:3 | c.970C>T homozygous | p.Arg324Cys | British, 43, M |
| CHRO709-II:1 | c.1187+5G>C homozygous | Splice defect (p.Asn366Hisfs*12)a | Asian Indian, 27, F |
| CHRO709-II:2 | c.1187+5G>C homozygous | Splice defect (p.Asn366Hisfs*12)a | Asian Indian, 23, F |
| CHRO593-IV:1 | c.1533+1G>C homozygous | Splice defect (p.Gly512Leufs*39 and p.Gly512Valfs*11)a | French Canadian, 17, M |
| CHRO593-II:3 | c.1533+1G>C homozygous | Splice defect (p.Gly512Leufs*39 and p.Gly512Valfs*11)a | French Canadian, 94, M |
| MOGL411-MOGL467-III:4 | c.1533+1G>C homozygous | Splice defect (p.Gly512Leufs*39 and p.Gly512Valfs*11)a | French Canadian, 59, F |
| MOGL411-MOGL467-IV:1 | c.1533+1G>C homozygous | Splice defect (p.Gly512Leufs*39 and p.Gly512Valfs*11)a | French Canadian, 25, M |
| MOGL5414-II:1 | c.1533+1G>C homozygous | Splice defect (p.Gly512Leufs*39 and p.Gly512Valfs*11)a | French Canadian, 32, M |
| CHRO649-II:1 | c.1699T>A homozygous | p.Tyr567Asn | Iranian, 26, F |
| ZD179-II:1 | c.353delC homozygous | p.Pro118Leufs*31 | Turkish, 41, F |
| CHRO436-II:1 | c.797dupC/c.1110dupA compound heterozygous | p.Asn267*/p.Val371Serfs*3 | German, 22, M |
| CHRO436-II:2 | c.797dupC/c.1110dupA compound heterozygous | p.Asn267*/p.Val371Serfs*3 | German, 17, F |
Ages are shown in years. M, male; F, female.
a
Confirmed by cDNA analysis.