Molecular epidemiology of Citrullinemia type I in a risk region of Argentina: A first step to preconception heterozygote detection

LAURA E. LARÓVERE; SILENE M. SILVERA RUIZ; CELIA J. ANGARONI; RAQUEL DODELSON DE KREMER

Journal of inherited metabolic disorders reports

SSIEM and Springer-Verlag

Lugar: Berlin; Año: 2012 vol. 6 p. 27 - 27

2192-8304

lassical citrullinemia (CTLN1) is an autosomal recessive disorder encoded by the ASS1 gene which codes for argininosuccinate synthetase (ASS), the rate-limiting enzyme in the urea cycle. Previously, we identified the mutation p.G390R in patients with CTLN1 in the San Luis Province of Argentina. Here, we report the results of p.G390R analysis in a larger number of probands, relatives of involved families and additionally, a population study to identify carriers. Altogether, we analyzed 420 alleles, belonging to 12 probands, 26 relatives and 172 healthy volunteers. All the probands were homozygous for the mutation, and 21 of 26 relatives were carriers. The occurrence of the disease in descendants of couples at risk was 57% showing a preferential transmission of the mutant allele compare to the normal allele. The carrier frequency in the general San Luis Province population was 4.1%, suggesting the incidence of CTLN1 to be 1:2,427, which is approximately 20 times higher than for the gene