Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster
Copyright policy )Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster
Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area.Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay.The studied families showed the same mutation: ASS~p.G390R, associated with the early-onset/severe phenotype.We postulate a possible population cluster. A program to know the carrier frequency in that population is in progress.
- National University of Córdoba Argentina
- Kitasato University Japan
Male, Citrullinemia, Genotype, Geography, Argentina, Infant, Newborn, Argininosuccinate Synthase, Pedigree, Genetics, Population, Amino Acid Substitution, Mutation, Humans, Family, Female
Male, Citrullinemia, Genotype, Geography, Argentina, Infant, Newborn, Argininosuccinate Synthase, Pedigree, Genetics, Population, Amino Acid Substitution, Mutation, Humans, Family, Female
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