2.1基因测序结果先证者(Ⅱ1)血标本行PKD1、PKD2和多囊性肝肾疾病1(PKHD1)基因的全部外显子、外显子与内含子交界区行靶向捕获及高通量测序,结果为先证者PKD1基因存在剪切位点突变,即c.12138+1G>A杂合突变(图3)。因其父亲因多囊肾去世,无法验证,其母亲未见PKD1...
Next-generation sequencing (NGS)-based analysis of polycystic kidney disease (PKD)-associated genes in the proband revealed the presence of a pathogenic PKD2 variant and a likely pathogenic variant in PKD1, according to the American College of Medical Genetics and Genomics (ACMG) criteria. The ...
PKD1Biallelic mutationsMolecular geneticsConsanguinityBACKGROUND: Polycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal recessive pattern. Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, ...
The PKD1 and PKD2 genes have been cloned and mutations defined in a number of patients. Several clinical studies have described a milder phenotype for PKD2 patients. More recently, evidence for a third genetic locus has been found in one Portuguese, one French-Canadian, and one Italian family....
No large deletion mutation was detected in II2 or II3 using a multiple ligation-dependent probe amplification assay for the PKD1 and PKD2 genes, and no PKHD1 mutations were detected. R3277C is at a highly conserved site in polycystin-1 (PC1), completely conserved to fish (Grantham ...
Genetically, ADPKD is caused by loss-of-function mutations in the PKD1 and PKD2 genes, which encode polycystin-1 (PC1) and polycystin-2 (PC2) [3], [4]. PC1 is a large integral membrane protein required for activation of cation permeable currents [5], [6] and regulation of cell ...
and PKD2 (MIM#173910) genes.1 In clinically defined populations, mutations in PKD1 and PKD2 account for 85% and 15% of cases, respectively.2 This slowly progressive disease is not only associated with multiple kidney cysts but also causes systemic manifestations, such as liver cysts and cerebra...
Ariza M, Alvarez V, Marin R et al: A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet 1997; 34: 587–589. Article CAS Google Scholar Constantinou-Deltas CD, Papageorgiou E, Boteva K et al: Genet...
Mutation in PKD1 (encoding polycystin-1, PC1) is found in 85% of ADPKD cases, where mutation in PKD2 (encoding polycystin-2, PC2) accounts for 15% of cases (Sutters and Germino, 2003; Wilson, 2004; Zhou, 2009; Gallagher et al., 2010; Cornec-Le Gall et al., 2014). PC1...
mTOR inhibitors, such as rapamycin, are highly effective in several rodent models of PKD, but these models result from mutations in genes other than Pkd1 and Pkd2, which are the primary genes responsible for human autosomal dominant PKD. To address this limitation, we tested the efficacy of ...