Table 3 Summary of the key clinical and genetic data of the 6 mentioned heterozygous parents with the GPD1 variants
Reference | Case | Relation | Age | Consanguineous | Country | GPD1 Variants | Location | Zygosity | Elevated TG | Clinical features |
|---|---|---|---|---|---|---|---|---|---|---|
Basel-Vanagaite et al. (2012) | 1 | Mother of F2-II6 | 47y | NA | Israel | c.361-1G > C, p.I119fs*94 | intron3 | Heterozygote | Y | Fatty liver; obesity; normal liver enzymes; HTG |
Li et al. (2017) | 2 | The father | 40y | N | China | c.220–2 A > G | Intron2 | Heterozygote | N | Short in stature; (the height:160 cm, BMI:17.6), |
Li et al. (2017) | 3 | The mother | 37y | N | China | c.820G > A, p. A274T | exon6 | Heterozygote | N | Short in stature; (the height:153 cm, BMI:27.8) Obesity |
Dionisi-Vici et al. (2016) | 4 | The father | NA | N | NA | c.361-1G > C, p.I119fs*94 | intron3 | Heterozygote | Y | Fatty liver |
Dionisi-Vici et al. (2016) | 5 | The mother of patient B | NA | N | NA | c.361-1G > C, p.I119fs*94 | intron3 | Heterozygote | Y | Fatty liver |
Li et al. (2018) | 6 | The father of patient B | NA | N | China | c.523 C > T, p. Q175* | exon4 | Heterozygote | Y | Obesity(BMI:31.3); Elevated liver enzymes |