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Table 2 Summary of the pathogenic LPL nonsense variants so far reported in the literature

From: Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis

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   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   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   <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)
  1. AP Acute pancreatitis, d days, m Months, LPL Lipoprotein lipase, NI Not informative, TG Triglyceride