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Homozygous frameshift mutation in the SLC22A12 gene in a patient with primary gout and high levels of serum uric acid

¹ Rheumatology Service, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, México DF, Mexico
² Hematology Service, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico DF, Mexico
³ Molecular Biology and Genetics Department, CINVESTAV, IPN, Mexico DF, Mexico.
⁴ Genetic Service, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico DF, Mexico

Correspondence to:
Dr S Cuevas-Covarrubias
Servicio de Genética, Hospital General de México, Fac. Medicina, UNAM, Dr Balmis 148 Col Doctores CP 06726, Mexico DF, Mexico; sergioa@servidor.unam.mx 20 July 2006

The first 150 words of the full text of this article appear below.

Idiopathic renal hypouricaemia (IRH), an autosomal recessive disorder, is an uncommon disease that presents with an increase in uric acid excretion. Most patients with IRH have homozygous deleterious mutations in the SLC22A12 gene that encodes for URAT1 protein. Gout is a multifactorial metabolic disease caused by the deposition of urate crystals. This study describes a patient with high levels of uric acid, primary gout and a novel SLC22A12 gene mutation, which is associated to IRH. The patient showed a 1 bp homozygous insertion (680insG) that resulted in substitution of threonine instead of alanine and in a premature stop codon. This finding provides information about the influence of environmental and/or epigenetic factors in Mendelian inheritance.

Idiopathic renal hypouricaemia (IRH) is an autosomal recessive disorder characterised by increased uric acid excretion.¹ The main biochemical defect is abnormal uric acid transport at the proximal tubule. URAT protein seems to be the major mechanism . . . [Full text of this article]

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