Autosomal dominant polycystic kidney disease: detection of a new mutation in the PKD1 gene

IGLESIAS, D. M; MANRIQUE M; ARRIZURIETA, E; KORNBLIHTT A. R; HERRERA M; MARTIN R; BERNATH, V

MEDICINA

Buenos Aires

Año: 1999 p. 133 - 137

0076-6046

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Since the identification of the PKD1 gene, the interest was centered in the characterization of the mutations responsible for the disease. Most mutations found were diverse and situated throughout the gene with no phenotypic correlation. Here we describe a new mutation in exon 44 from PKD1 gene in a family previously characterized as PKD1 by linkage analysis. The mutation is a single base substitution from a C to a T at position 12220 originating a stop codon at the mutation site. This would lead to premature termination and the formation of a truncated protein lacking part of the carboxi-terminus.