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Table 1 Biochemical and Phenotype of proband and family members

From: A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

  Proband (9 years) Younger Sister (2 years) Elder Sister (14 years) Mother (38 years) Father (41 years)
Phenotype Nephrolithiasis‚ Haematuria Asymptomatic Asymptomatic Asymptomatic Asymptomatic
sUA (μmol/L) 97 (120–320) 86 (120–320) 81 (120–320) 179 (150–350) 172 (150–350)
FE-UA (%) 33 (6–12) 25 (6–12) 15 (6–12) 9 (6–12) 13 (6–12)
Identified variants SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (A/A) c.1049C > T (C/T) SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (A/A) c.1049C > T (C/T) SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (G/A) c.1049C > T (C/T) SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (G/A)