From: LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred
Country | Exon mutation | Nucleotide change | Phenotype | Age | Gender | HDL-C mg/dL | TG mg/dL | LCAT activity nmol/mL/h |
---|---|---|---|---|---|---|---|---|
Argentinean | Unknown | Unknown | Unclassified | 63 | F | 4 | 765 | 2.4 |
Brazilian | Ex 5 Ex 6 | c.679 A > T c.803 G > A c.893 C > T | 38 FLD | 38 | 18 F, 20 M | <10 |  | - |
Chilean | Ex 6 Ex 6 | c.997G > A c.1210 A > G | FLD | 36 | F | 3 | 387 | - |
Colombian | - | - | FLD | 33 | M | 4 | 1260 | - |
Ecuadorian | - | - | FLD | 60 | F | Â | Â | - |
Mexican Mestizo (1 proband and 2 other members of same family) | Ex 1 | Trp8* | FLD | 37 | F | 15 | 300 | 3.70 |
Mexican Mestizo | Ex 1 Ex 1 | c.101dupC c.110 C > T | FED | 70 | F | 12 | 334 | 4.20 |
Mexican Mestizo | Ex 1 | c.110 C > T | FLD | 34 | M | 2 | 597 | 2.10 |
Mexican Mestizo | Ex 4 | c.490 C > T | FLD | 29 | F | 4 | 186 | - |
Total | Â | 10 | 48 | - | - | - | Â | - |