Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene

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 interes...

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Autores principales:	Manrique, Mariana Lorena, Kornblihtt, Alberto Rodolfo, Bernath, Viviana A.
Publicado:	1999
Materias:	Mutational analysis Novel PKD1 mutation PKD1 Polycystic kidney disease type 1 polycystic kidney disease 1 protein polycystin protein adolescent adult article DNA sequence genetic linkage genetics human kidney polycystic disease mutation newborn stop codon Adolescent Adult Codon, Terminator Humans Infant, Newborn Linkage (Genetics) Mutation Polycystic Kidney, Autosomal Dominant Proteins Sequence Analysis, DNA TRPP Cation Channels
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias http://hdl.handle.net/20.500.12110/paper_00257680_v59_n2_p133_Iglesias
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_00257680_v59_n2_p133_Iglesias
record_format	dspace
spelling	paper:paper_00257680_v59_n2_p133_Iglesias2023-06-08T14:53:32Z Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene Manrique, Mariana Lorena Kornblihtt, Alberto Rodolfo Bernath, Viviana A. Mutational analysis Novel PKD1 mutation PKD1 Polycystic kidney disease type 1 polycystic kidney disease 1 protein polycystin protein adolescent adult article DNA sequence genetic linkage genetics human kidney polycystic disease mutation newborn stop codon Adolescent Adult Codon, Terminator Humans Infant, Newborn Linkage (Genetics) Mutation Polycystic Kidney, Autosomal Dominant Proteins Sequence Analysis, DNA TRPP Cation Channels 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. Fil:Manrique, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Kornblihtt, A.R. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Bernath, V.A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 1999 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias http://hdl.handle.net/20.500.12110/paper_00257680_v59_n2_p133_Iglesias
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Mutational analysis Novel PKD1 mutation PKD1 Polycystic kidney disease type 1 polycystic kidney disease 1 protein polycystin protein adolescent adult article DNA sequence genetic linkage genetics human kidney polycystic disease mutation newborn stop codon Adolescent Adult Codon, Terminator Humans Infant, Newborn Linkage (Genetics) Mutation Polycystic Kidney, Autosomal Dominant Proteins Sequence Analysis, DNA TRPP Cation Channels
spellingShingle	Mutational analysis Novel PKD1 mutation PKD1 Polycystic kidney disease type 1 polycystic kidney disease 1 protein polycystin protein adolescent adult article DNA sequence genetic linkage genetics human kidney polycystic disease mutation newborn stop codon Adolescent Adult Codon, Terminator Humans Infant, Newborn Linkage (Genetics) Mutation Polycystic Kidney, Autosomal Dominant Proteins Sequence Analysis, DNA TRPP Cation Channels Manrique, Mariana Lorena Kornblihtt, Alberto Rodolfo Bernath, Viviana A. Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene
topic_facet	Mutational analysis Novel PKD1 mutation PKD1 Polycystic kidney disease type 1 polycystic kidney disease 1 protein polycystin protein adolescent adult article DNA sequence genetic linkage genetics human kidney polycystic disease mutation newborn stop codon Adolescent Adult Codon, Terminator Humans Infant, Newborn Linkage (Genetics) Mutation Polycystic Kidney, Autosomal Dominant Proteins Sequence Analysis, DNA TRPP Cation Channels
description	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.
author	Manrique, Mariana Lorena Kornblihtt, Alberto Rodolfo Bernath, Viviana A.
author_facet	Manrique, Mariana Lorena Kornblihtt, Alberto Rodolfo Bernath, Viviana A.
author_sort	Manrique, Mariana Lorena
title	Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene
title_short	Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene
title_full	Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene
title_fullStr	Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene
title_full_unstemmed	Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene
title_sort	autosomal dominant polycystic kidney disease: detection of a novel mutation in the pkd1 gene
publishDate	1999
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias http://hdl.handle.net/20.500.12110/paper_00257680_v59_n2_p133_Iglesias
work_keys_str_mv	AT manriquemarianalorena autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT kornblihttalbertorodolfo autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT bernathvivianaa autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene
_version_	1768545176340398080

Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene

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