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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Iglesias, D.M., Manrique, M., Arrizurieta, E.E., Kornblihtt, A.R., Herrera, M., Martin, R.S., Bernath, V.A.
Formato:	JOUR
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:	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	todo:paper_00257680_v59_n2_p133_Iglesias
record_format	dspace
spelling	todo:paper_00257680_v59_n2_p133_Iglesias2023-10-03T14:36:36Z Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene Iglesias, D.M. Manrique, M. Arrizurieta, E.E. Kornblihtt, A.R. Herrera, M. Martin, R.S. Bernath, V.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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar 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 Iglesias, D.M. Manrique, M. Arrizurieta, E.E. Kornblihtt, A.R. Herrera, M. Martin, R.S. Bernath, V.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.
format	JOUR
author	Iglesias, D.M. Manrique, M. Arrizurieta, E.E. Kornblihtt, A.R. Herrera, M. Martin, R.S. Bernath, V.A.
author_facet	Iglesias, D.M. Manrique, M. Arrizurieta, E.E. Kornblihtt, A.R. Herrera, M. Martin, R.S. Bernath, V.A.
author_sort	Iglesias, D.M.
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
url	http://hdl.handle.net/20.500.12110/paper_00257680_v59_n2_p133_Iglesias
work_keys_str_mv	AT iglesiasdm autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT manriquem autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT arrizurietaee autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT kornblihttar autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT herreram autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT martinrs autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene AT bernathva autosomaldominantpolycystickidneydiseasedetectionofanovelmutationinthepkd1gene
_version_	1807315128047108096

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

Ejemplares similares