Table 2 Summary of the pathogenic LPL nonsense variants so far reported in the literature
Variant | Reference | Patient’s age | Country | Zygosity | The other variant in case of compound heterozygosity | LPL activity (% of normal) | LPL mass (% of normal) | TG level (mmol/L) | AP (times) |
|---|---|---|---|---|---|---|---|---|---|
p.Trp14* (c.42G > A) | Nakamura et al. (1996) [33] | 74 | Japan | Homozygote |  | NI | 0 | 18.5 | No |
Li et al. (2018) [41] | 61 | China | Compound heterozygote | p.Leu279Val (c.835C > G) | 39.9 | 48.60 | 38.6 | Yes (3) | |
p.Cys54* (c.162C > A) | Chan et al. (2006) [37] | 7 d | China | Compound heterozygote | p.Leu279Val (c.835C > G) homozygote | NI | NI | 17.4 | NI |
p.Tyr88* (c.264 T > A) | Ebara et al. (2001) [36] | 66 | Japan | Homozygote |  | 0 | 0 | 26.6 | No |
Gotoda et al. (1991) [27] | 3 m | Japan | Homozygote |  | 14 | 0 | 216 | No | |
Gotoda et al. (1992) [28] | 10 m | Japan | Compound heterozygote | p.Ala248LeufsTer4) (c.742del) | <5 | 0 | 46.2 | NI | |
p.Trp91* (c.272G > A) | Sprecher et al. (1992) [30] | 3 | USA | Compound heterozygote | p.Ile221Thr (c.662 T > C) | 0.0 | 34.2 | > 226 | Yes (recurrent) |
23 | USA | Heterozygote | Â | 60.2 | 37.6 | 1.4 | No | ||
p.Tyr100* (c.300C > A) | Wilson et al. (1993) [31] | 43 | German and English-Irish ancestry | Compound heterozygote | p.Arg102Ser (c.306A > C) | 6 | 28.5 | 16.7 | Yes |
p.Gln133* (c.397C > T) | Ishimura-Oka et al. (1992) [29] | 1 | English | Compound heterozygote | p.Trp113Arg (c.337 T > C) | 22.4 | NI | 7.9 | NI |
Emi et al. (1990) [26] | 5 m | German and Polish ancestry | Homozygote |  | NI | NI | 56.5 | NI | |
p.Cys266* (c. 798C > A) | Takagi et al. (1994) [32] | 54 | Japan | Compound Heterozygote | p.Ser474*(p.1421C > G) | 55.1 | 61.6 | 4.5 | NI |
p.Tyr289* (c.867C > A) | Evans et al. (2011) [39] | 44 | German | Compound heterozygote | p.Asp36Asn (c.106G > A) | NI | NI | 11.6 | NI |
p.Cys291* (c.873C > A) | Jap et al. (2003) [43] | 46 | China | Compound heterozygote | p.Leu279Val(c.835C > G) | 9 | 13 | 51.6 | Yes (>10) |
p.Tyr329* (c.987C > A) | Bertolini et al. (2000) [35] | 7 | Italy | Homozygote |  | 0 | 0 | 29.8 | Yes |
Hegele et al. (2018) [40] | NI | UK | Homozygote | Â | 0.1 | NI | NI | NI | |
p.Trp409* (c.1227G > A) | Gotoda et al. (1991) [27] | 6 m | Japan | Homozygote |  | 15.6 | 5.4 | 67.9 | NI |
Takagi et al. (1999) [34] | 5 m | Japan | Compound heterozygote | p.Gly215Glu (c.644G > A) | <10 | <10 | 48.1 | No | |
Suga et al. (1998) [42] | 40 | Japan | Homozygote | Â | <1 | <1 | 37.6 | Yes | |
p.Trp421* (c.1262G > A) | Hooper et al. (2008) [38] | 43 | Australia | Compound heterozygote | p.Gly215Glu (c.644 G > A) | Very low | NI | 32.2 | Yes (recurrent) |