Table 2.
Ethnicity | Protein variant | Inheritance | Reference(s) |
---|---|---|---|
Old Order Amish | p.Glu180Ter | AR | Johnston et al. (13) and Jin et al. (19) |
Dutch | ΔExon 8 | ARa | van der Pol et al. (14) |
Dutch | ΔExon 14 | ARa | van der Pol et al. (14) |
Hispanic | p.Ser108Ter | AR | Marra et al. (15) |
Palestinian | p.Leu203Ter | AR | Abdulhaq et al. (9) |
Iranian | p.Leu203Ter | AR | Fattahi et al. (16) |
Not specified | p.Glu104Val | AD | Konersman et al. (10) |
Compound heterozygous variants in Dutch kindred.
AD, autosomal dominant; AR, autosomal recessive.