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Summary
KELLEY-SEEGMILLER SYNDROME
HPRT1 DEFICIENCY, PARTIAL
300323
OMIM = Online Medalian Inheritance of Men
79233
Xq26.2-q26.3
rare
X-linked recessive
mutation in the HPRT gene
symptoms
gout
onset, adolescent
onset, childhood
onset, infancy
renal failure, acute/chronic
urolithiasis, kidney stones
laboratory finding
Uric acid increasedurine
Uric acid +€mol/mlserum
Literature
Taylor RW,et al.Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesJAMA312168-772014
Ferreiro-Barros CC,et al.Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesisJ Neurol Sci2751128-1322008
Vinu N,et al.Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 GeneIndian J Pediatr002017
Janer A,et al.An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAm J Hum Genet914737-7432012
Janer A,et al.RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementEur J Hum Genet23101301-13072015
Taylor RW,et al.Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesJAMA312168-772014
Ravn K,et al.Hearing impairment and renal failure associated with RMND1 mutationsAm J Med Genet A1701142-1472016
Garcia-Diaz B,et al.Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutationAm J Hum Genet914729-7362012