Table 1 Type of mutations and main clinical phenotypes of reported HOIL-1L deficiency families.
References | Patient | Allele1 (DNA) | Allele2 (DNA) | Allele1 (Protein) | Allele2 (Protein) | Exon | Clinical presentation |
|---|---|---|---|---|---|---|---|
Boisson et al | Family 1 | c.553C>T | c.ex1_ex4del | Q185* | 1–154 del (NTD) | E5/E1-4 | Immunodeficiency Autoinflammation Cardiomyopathy |
Family 2 | c.121_122delCT | c.121_122delCT | L41fs*7 | L41fs*7 | E2 | ||
Nilsson et al | Family A | c.1160A>G | c.727G>T | N387S | E243* | E9/E6 | Cardiomyopathy |
Family B | c.896-899delAGTG | c.896-899delAGTG | E299Vfs*18 | E299Vfs*18 | E7 | Cardiomyopathy → transplantation | |
Family C | c.722delC | c.722delC | A241Gfs*34 | A241Gfs*34 | E6 | Cardiomyopathy | |
Family D | c.52G>C | c.52G>C | A18P | A18P | E2 | Cardiomyopathy | |
Family E | c.ex1_ex4del | c.727_728InsGGCG | 1–154 del (NTD) | E243Gfs*114 | E1-4/E6 | Cardiomyopathy → died of heart failure | |
Family F | c.1054C>T | c.1054C>T | R352* | R352* | E9 | Cardiomyopathy → transplantation | |
Family G | c.817+3_917+4 insG | c.817+3_917+4 insG | R298Rfs*40 | R298Rfs*40 | E7 | Myopathy | |
Family H | c.494delG | c.494delG | R165Rfs*111 | R165Rfs*111 | E5 | Cardiomyopathy → transplantation | |
Krenn et al | Pt 1 and 2 | c.896-899delAGTG | c.896-899delAGTG | E299Vfs*18 | E299Vfs*18 | E7 | Cardiomyopathy → die/transplantation |
