scholarly journals The polycystic kidney disease 1 (Pkd1) gene is required for the responses of osteochondroprogenitor cells to midpalatal suture expansion in mice

Bone ◽  
2009 ◽  
Vol 44 (6) ◽  
pp. 1121-1133 ◽  
Author(s):  
Bo Hou ◽  
Elona Kolpakova-Hart ◽  
Naomi Fukai ◽  
Kimberly Wu ◽  
Bjorn R. Olsen
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Polycystic Kidney ◽  
Midpalatal Suture ◽  
Pkd1 Gene

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene

Gene ◽  
2018 ◽  
Vol 671 ◽  
pp. 28-35 ◽  
Author(s):  
Mayssa Abdelwahed ◽  
Pascale Hilbert ◽  
Asma Ahmed ◽  
Hichem Mahfoudh ◽  
Salem Bouomrani ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Mutational Analysis ◽  
Polycystic Kidney ◽  
Pkd1 Gene ◽  
Autosomal Dominant Polycystic Kidney

Mutation variability at polycystic kidney disease detected by NGS

2020 ◽  
pp. 25-37
Author(s):  
Н.Н. Вассерман ◽  
А.В. Поляков
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Target Genes ◽  
Autosomal Dominant ◽  
Molecular Genetic Analysis ◽  
Polycystic Kidney ◽  
Parallel Sequencing ◽  
Pkd1 Gene ◽  
Autosomal Dominant Polycystic Kidney

Поликистозная болезнь почек (ПП) является клинически и генетически гетерогенной группой заболеваний, может наследоваться как аутосомно-доминантно (АД), так и аутосомно-рецессивно (АР). К развитию АР ПП приводят мутации в гене PKHD1. Большинство мутаций при АД ПП находят в гене PKD1 (80-85%). Примерно в 15% случаев мутации выявляют в гене PKD2. Клиническое и генетическое разнообразие ПП требует поиска мутаций в нескольких генах, поэтому он является трудоемким, дорогостоящим и требует много времени. Метод массового параллельного секвенирования (МПС) позволяет проводить поиск мутаций в нескольких генах одновременно независимо от их размера. Проведен поиск мутаций в 254 семьях с ПП методом МПС с использованием панели, включающей гены PKHD1, PKD1, PKD2, HNF1B и GANAB. Два варианта в гене PKHD1 было идентифицировано в 49 семьях (19%), один вариант найден в 9 случаях (3,5%); в гене PKD1 обнаружено 62 варианта (24,5%), в гене PKD2 - 6 вариантов (2,5%), в гене HNF1B - 9 вариантов (3,5%). В 119 семьях, что составило 47%, мутации найдены не были. У больных из семей с генеалогически установленным АД типом наследования в большинстве случаев (39 из 66; 59%) выявлены варианты в гене PKD1, приводящие к ПП. Из 59 изолированных случаев ПП в 17% (10 человек) идентифицированы 2 варианта в гене PНKD1, в 20% (12 человек) - в гене PKD1. При неизвестном типе наследования (129 случаев) в 29,5% (38 чел.) найдены 2 варианта в гене PНKD1, в 8,5% (11 чел.) - в гене PKD1, в 3% (4 чел.) - в гене PKD2, в 4% (5 чел.) - в гене HNF1B. Таким образом, МПС относительно быстро позволяет проводить молекулярно-генетический анализ одновременно в нескольких генах у больных с признаками ПП. Polycystic kidney disease is a heterogeneous group of autosomal dominant or autosomal recessive disorders with age of manifestation varying from prenatal period to adulthood. Autosomal recessive polycystic kidney disease is caused by mutations in the PKHD1 gene. Approximately 85% of all autosomal dominant polycystic kidney disease cases are caused by mutations in the PKD1 gene, and around 15% - by mutations in the PKD2 gene. All these genes are large, and mutations were found to be scattered throughout the genes without any clustering. Therefore, mutation detection requires a lot of time, money, and effort. Due to clinical and genetic diversity of polycystic kidney disease, the search for mutations has to be carried out in several genes. Mass parallel sequencing (MPS) allows to analyze several genes simultaneously regardless of their size. 254 families with polycystic kidney disease were examined using mass parallel sequencing with a gene panel that included PKHD1, PKD1, PKD2, HNF1B and GANAB. Two variants in PKHD1 were found in 49 families (19%), one variant - in 9 families (3.5%); in PKD1 62 variants were detected (24.5%), in PKD2 - 6 variants (2.5%), in HNF1B - 9 variants (3.5%). In 119 families (47%) there were no mutations in the target genes. Among 66 patients from families with autosomal dominant polycystic kidney disease, 39 patients (59%) had mutations in the PKD1 gene. Out of 59 sporadic cases, 10 patients (17%) had 2 variants in PНKD1, 12 patients (20%) - in PKD1. 38 patients (29.5%) out of 129 patients with unknown type of inheritance had 2 variants in PНKD1, 11 patients (8.5%) - in PKD1, 4 patients (3%) - in PKD2, 5 patients (4%) - in HNF1B. Mass parallel sequencing allows to carry out relatively rapid molecular genetic analysis of several genes simultaneously for patients with symptoms of polycystic kidney disease.

scholarly journals Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease

2020 ◽  
Vol 32 (4) ◽  
pp. 549-555
Author(s):  
Nüket Bilgen ◽  
Merve Bişkin Türkmen ◽  
Bengi Çınar Kul ◽  
Sevim Isparta ◽  
Yusuf Şen ◽  
...  
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Nuclear Family ◽  
Hereditary Diseases ◽  
Polycystic Kidney ◽  
Renal Abnormality ◽  
Pkd1 Gene ◽  
High Prevalence ◽  
Pcr Rflp

Polycystic kidney disease (PKD) is one of the most common hereditary diseases in cats, with high prevalence in Persian and Persian-related cats. PKD is caused mainly by an inherited autosomal dominant (AD) mutation, and animals may be asymptomatic for years. We screened 16 cats from various breeds exhibiting a renal abnormality by ultrasound examination and genotyped them for the c.10063C>A transversion on exon 29 of the polycystin-1 ( PKD1) gene, by PCR–restriction fragment length polymorphism (PCR-RFLP). Among these cats, a Siamese nuclear family of 4 cats with ancestral hereditary renal failure were screened by whole-genome sequencing (WGS) to determine novel variations in genes associated with both AD and autosomal recessive PKD in humans. During the study period, one cat died as a result of renal failure and was forwarded for autopsy. Additionally, we screened 294 cats asymptomatic for renal disease (Angora, Van, Persian, Siamese, Scottish Fold, Exotic Shorthair, British Shorthair, and mixed breeds) to determine the prevalence of the mutation in cats in Turkey. Ten of the symptomatic and 2 of the asymptomatic cats carried the heterozygous C → A transversion, indicating a prevalence of 62.5% and 0.68%, respectively. In the WGS analysis of 4 cats in the Siamese nuclear family, novel variations were determined in the fibrocystin gene ( PKHD1), which was not compatible with dominant inheritance of PKD.

scholarly journals Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease

2002 ◽  
Vol 17 (1) ◽  
pp. 75-80 ◽  
Author(s):  
Lan Ding ◽  
Sizhong Zhang ◽  
Weimin Qiu ◽  
Cuiying Xiao ◽  
Shaoqing Wu ◽  
...  
Keyword(s):  
Amino Acids ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Frameshift Mutation ◽  
Chinese Patients ◽  
Common Disease ◽  
Polycystic Kidney ◽  
Pkd1 Gene ◽  
Autosomal Dominant Polycystic Kidney

Abstract Background. Autosomal dominant polycystic kidney disease (ADPKD) is a common disease in China. The major gene responsible for ADPKD, PKD1, has been fully characterized and shown to encode an integral membrane protein, polycystin 1, which is thought to be involved in cell–cell and cell–matrix interaction. Until now, 82 mutations of PKD1 gene have been reported in European, American, and Asian populations. However, there has been no report on mutations of the PKD1 gene in a Chinese population. Methods. Eighty Chinese patients in 60 families with ADPKD were screened for mutations in the 3′ region of the PKD1 gene using polymerase chain reaction–single-strand conformation polymorphism (PCR–SSCP) and DNA-sequencing techniques. Results. Three mutations were found. The first mutation is a 12593delA frameshift mutation in exon 45, and the polycystin change is 4129WfsX4197, 107 amino acids shorter than the normal polycystin (4302aa). The second mutation is a 12470InsA frameshift mutation in exon 45, producing 4088DfsX4156, and the predicted protein is 148 amino acids shorter than the normal. The third one is a 11151C→T transition in exon 37 converting Pro3648 to Leu. In addition, nine DNA variants, including IVS44delG, were identified. Conclusions. Three mutations in Chinese ADPKD patients are described and all of them are de novo mutations. Data obtained from mutation analysis also suggests that the mutation rate of the 3′ single-copy region of PKD1 in Chinese ADPKD patients is very low, and there are no mutation hot spots in the PKD1 gene. Mutations found in Chinese ADPKD patients, including nucleotide substitution and minor frameshift, are similar to the findings reported by other researchers. Many mutations of the PKD1 gene probably exist in the duplicated region, promoter region, and the introns of PKD1.

scholarly journals The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

1997 ◽  
Vol 31 (3) ◽  
pp. 241-247 ◽  
Author(s):  
J. Nauta ◽  
M. A. Goedbloed ◽  
T. M. Luider ◽  
A. Th. Hoogeveen ◽  
A. M. W. van den Ouweland ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Genetic Model ◽  
Polymorphic Marker ◽  
Polycystic Kidney ◽  
Pkd1 Gene ◽  
Random Segregation ◽  
Rat Strain ◽  
Autosomal Dominant Polycystic Kidney

Human autosomal dominant polycystic kidney disease (ADPKD) is a high incidence disorder, leading to renal failure in many patients. The majority of cases results from a mutation in the PKD1 gene. The only well documented animal model of ADPKD is the Han:SPRD- Pkd strain. Its genetic basis is unknown as yet. In the current study we determined whether the disease in these rats is genetically linked to the rat homologue of the PKD1 gene. We used the protamine gene as a polymorphic marker ( Prm1) of the PKD1 region. Matings of Han:SPRD- Pkd with BB rats and backcross of the offspring with BB yielded animals informative for linkage analysis. This analysis revealed random segregation of the defect and the Prm1 marker, indicating that the model is not caused by a mutation in the PKD1 gene. We conclude that the Han:SPRD- Pkd rat strain is not a genetic model of PKD1.

Sign in / Sign up

Export Citation Format

Share Document