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.
OBJECTIVE
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.


METHODS
Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay.


RESULTS
The studied families showed the same mutation: ASS~p.G390R, associated with the early-onset/severe phenotype.


CONCLUSIONS
We postulate a possible population cluster. A program to know the carrier frequency in that population is in progress.
Centro de Estudio de las Metabolopatías Congénitas, Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de Córdoba, Ferroviarios 1250, 5014, Córdoba, Argentina. lauralarovere@hotmail.com
Laura E
LE
Laróvere
Celia J
CJ
Angaroni
Sandra L
SL
Antonozzi
Miriam B
MB
Bezard
Mariko
M
Shimohama
Raquel Dodelson
RD
de Kremer
D019943:Amino Acid Substitution / Q000235:genetics*; D001118:Argentina; D001124:Argininosuccinate Synthase / Q000235:genetics*; D020159:Citrullinemia / Q000201:enzymology* / Q000235:genetics*; D005190:Family; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
D001124:Argininosuccinate Synthase