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Table 1 Clinical data and confirmed SLC22A12 mutations in patient and both parents

From: Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

Individuals

Gender

Age

SUA(mg/dl)

FEUA(%)

Clinical symptoms

SLC22A12 mutations

State

nucleotide

amino acid

Patient

Female

27y

0.33

50

c.269G > A/c.1289_1290insGG

p.R90H/p.M430fsX466

compound heterozygote

Father

Male

NA

3.68

NA

c.1289_1290insGG/WT

p.M430fsX466/WT

heterozygote

mother

Female

NA

4.35

NA

c.269G > A/WT

p.R90H/WT

heterozygote

  1. - denotes negative, NA denotes not available