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Yong-Qing Tong, Bei Liu, Chao-Hong Fu, Hong-Yun Zheng, Jian Gu, Hang Liu, Hong-Bo Luo, Yan Li
PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
Yanbao Xiang, Huanzheng Li, Chenyang Xu, Xueqin Dong, Xueqin Xu, Chong Chen, Shaohua Tang
OBJECTIVE: To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD). METHODS: Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software. RESULTS: Compound heterozygous mutations of c...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Kazeem Olalekan, Andy Fox, Rodney Gilbert
BACKGROUND: Unlicensed medications are used all the time in the management of diseases in childhood. Tolvaptan (Jinarc®) is a vasopressin V2-receptor antagonist licensed for use to slow the progression of cyst development and renal insufficiency of ADPKD in adults with CKD stage 1 to 3 with evidence of rapidly progressing disease. Studies of animal models implicate the antidiuretic hormone arginine vasopressin and its messenger cyclic adenosine monophosphate (cAMP) as promoters of kidney-cyst cell proliferation and luminal fluid secretion...
September 2016: Archives of Disease in Childhood
Burhan M Edrees, Mohammad Athar, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed, Zainularifeen Abduljaleel
Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process. Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c...
October 10, 2016: Gene
Salvatore Melchionda, Teresa Palladino, Stefano Castellana, Mario Giordano, Elisa Benetti, Patrizia De Bonis, Leopoldo Zelante, Luigi Bisceglia
Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe genetic disorder arising in the perinatal period, although a late-onset presentation of the disease has been described. Pulmonary hypoplasia is the major cause of morbidity and mortality in the newborn period. ARPKD is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene that is among the largest human genes. To achieve a molecular diagnosis of the disease, a large series of Italian affected subjects were recruited...
September 2016: Journal of Human Genetics
Asaf Vivante, Daw-Yang Hwang, Stefan Kohl, Jing Chen, Shirlee Shril, Julian Schulz, Amelie van der Ven, Ghaleb Daouk, Neveen A Soliman, Aravind Selvin Kumar, Prabha Senguttuvan, Elijah O Kehinde, Velibor Tasic, Friedhelm Hildebrandt
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic cause can be detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be examined. To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families. Using homozygosity mapping and WES, we identified the causative mutations in nine of the 33 families studied (27%)...
May 5, 2016: Journal of the American Society of Nephrology: JASN
Min Ji Jeon, Sung-Min Chun, Deokhoon Kim, Hyemi Kwon, Eun Kyung Jang, Tae Yong Kim, Won Bae Kim, Young Kee Shong, Se Jin Jang, Dong Eun Song, Won Gu Kim
BACKGROUND: Anaplastic thyroid carcinoma (ATC), the most aggressive type of thyroid cancer, has no effective therapy. Due to its dismal prognosis, it is vital to understand the genetic alterations of ATC and identify effective molecular targets. Targeted next-generation sequencing was performed to investigate the mutational profile of ATC using a massive parallel sequencing approach. METHODS: DNA from formalin-fixed, paraffin-embedded archival samples of 11 ATCs and normal matched pairs were used...
May 2016: Thyroid: Official Journal of the American Thyroid Association
Adina Quint, Michal Sagi, Shai Carmi, Hagit Daum, Michal Macarov, Ziva Ben Neriah, Vardiela Meiner, Orly Elpeleg, Israela Lerer
Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios. Hundreds of private pathogenic variants have been identified in the large PKHD1 gene in various populations. Yet, because of the large size of the gene, segregation analysis of microsatellite polymorphic markers residing in the PKDH1 locus has commonly been utilized for prenatal diagnosis. Keeping in mind the limitations of this strategy, we utilized it for testing 7 families with affected fetuses or newborns, of which in 5 at least one parent was Ashkenazi, and identified that the same haplotype was shared by the majority of the Ashkenazi parents (7/9)...
February 2016: European Journal of Medical Genetics
Luigi Locatelli, Massimiliano Cadamuro, Carlo Spirlì, Romina Fiorotto, Silvia Lecchi, Carola Maria Morell, Yury Popov, Roberto Scirpo, Maria De Matteis, Mariangela Amenduni, Andrea Pietrobattista, Giuliano Torre, Detlef Schuppan, Luca Fabris, Mario Strazzabosco
UNLABELLED: Congenital hepatic fibrosis (CHF) is a disease of the biliary epithelium characterized by bile duct changes resembling ductal plate malformations and by progressive peribiliary fibrosis, in the absence of overt necroinflammation. Progressive liver fibrosis leads to portal hypertension and liver failure; however, the mechanisms leading to fibrosis in CHF remain elusive. CHF is caused by mutations in PKHD1, a gene encoding for fibrocystin, a ciliary protein expressed in cholangiocytes...
March 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
F J Wei, C Y Cai, P Yu, J Lv, C Ling, W T Shi, H X Jiao, B C Chang, F H Yang, Y Tian, M S Li, Y H Wang, L Zou, J M Shi, L M Chen, W D Li
Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related quantitative traits in Han Chinese T2DM subjects. Unrelated Han Chinese T2DM patients (1975) were recruited. Eighty-six SNPs were genotyped and tested for association with quantitative traits including lipid profiles, blood pressure, body mass index (BMI), serum uric acid (SUA), glycated hemoglobin (HbA1c), plasma glucose [fasting plasma glucose (FPG)], plasma glucose 120 min post-OGTT (P2PG; OGTT = oral glucose tolerance test), and insulin resistance-related traits...
2015: Genetics and Molecular Research: GMR
Q Hou, K Chen, Z Shan
OBJECTIVE: To construct the cDNA library of the ascites tumor cells of ovarian cancer, which can be used to screen the related antigen for the early diagnosis of ovarian cancer and therapeutic targets of immune treatment. MATERIALS AND METHODS: Four cases of ovarian serous cystadenocarcinoma, two cases of ovarian mucinous cystadenocarcinoma, and two cases of ovarian endometrial carcinoma in patients with ascitic tumor cells which were used to construct the cDNA library...
2015: European Journal of Gynaecological Oncology
Jean-Benoît Courcet, Anne Minello, Fabienne Prieur, Laurent Morisse, Jean-Marc Phelip, Alain Beurdeley, Daniel Meynard, Denis Massenet, Flore Lacassin, Yannis Duffourd, Nadège Gigot, Judith St-Onge, Patrick Hillon, Claire Vanlemmens, Christiane Mousson, Jean-Pierre Cerceuil, Boris Guiu, Julien Thevenon, Christel Thauvin-Robinet, Emmanuel Jacquemin, Jean-Baptiste Rivière, Laurence Michel-Calemard, Laurence Faivre
Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c...
December 2015: American Journal of Medical Genetics. Part A
Sachin S Hajarnis, Vishal Patel, Karam Aboudehen, Massimo Attanasio, Patricia Cobo-Stark, Marco Pontoglio, Peter Igarashi
The transcription factor hepatocyte nuclear factor-1β (HNF-1β) regulates tissue-specific gene expression in the kidney and other epithelial organs. Mutations of HNF-1β produce kidney cysts, and previous studies have shown that HNF-1β regulates the transcription of cystic disease genes, including Pkd2 and Pkhd1. Here, we combined chromatin immunoprecipitation and next-generation sequencing (ChIP-Seq) with microarray analysis to identify microRNAs (miRNAs) that are directly regulated by HNF-1β in renal epithelial cells...
October 9, 2015: Journal of Biological Chemistry
Feng Dong, Qing-Quan Chen, Ze-Hao Zhuang, Qing-Liang He, Feng-Qing Wang, Qi-Cai Liu, He-Kun Liu, Yu Wang
BACKGROUND: It is now clear that there are two histological types (type 1 and type 2) of autoimmune pancreatitis (AI P). The histological substance of type 1 AI P is known as lymphoplasmacytic sclerosing pancreatitis (LPSP) or traditional AIP, and type 2 AIP is characterized by distinct histology called idiopathic duct centric pancreatitis (IDCP). Serum IgG4 increase is considered as a marker for type 1 AI P. Far less is known about type 2 and it lacks predicting markers, so it easily leads to missed diagnosis and misdiagnosis...
2014: Central-European Journal of Immunology
Marie-Pierre Audrézet, Christine Corbiere, Said Lebbah, Vincent Morinière, Françoise Broux, Ferielle Louillet, Michel Fischbach, Ariane Zaloszyc, Sylvie Cloarec, Elodie Merieau, Véronique Baudouin, Georges Deschênes, Gwenaelle Roussey, Sandrine Maestri, Chiara Visconti, Olivia Boyer, Carine Abel, Annie Lahoche, Hanitra Randrianaivo, Lucie Bessenay, Djalila Mekahli, Ines Ouertani, Stéphane Decramer, Amélie Ryckenwaert, Emilie Cornec-Le Gall, Rémi Salomon, Claude Ferec, Laurence Heidet
Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families...
March 2016: Journal of the American Society of Nephrology: JASN
K J Kelly, Jizhong Zhang, Ling Han, Malgorzata Kamocka, Caroline Miller, Vincent H Gattone, Jesus H Dominguez
Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children. Using PCK female rats, an orthologous model of autosomal recessive polycystic kidney disease harboring mutant Pkhd1, we tested the hypothesis that intravenous renal cell transplantation with normal Sprague Dawley male kidney cells would improve the polycystic kidney disease phenotype. Cytotherapy with renal cells expressing wild type Pkhd1 and tubulogenic serum amyloid A1 had powerful and sustained beneficial effects on renal function and structure in the polycystic kidney disease model...
2015: PloS One
M M Nabhan, H Abdelaziz, Y Xu, R El Sayed, M Santibanez-Koref, N A Soliman, J A Sayer
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD. Whole-exome data analysis was used to search for additional rare variants in additional ciliopathy genes that may have contributed to the unusual brain phenotype...
2015: Genetics and Molecular Research: GMR
S M Herbst, S Schirmer, C Posovszky, F Jochum, T Rödl, J A Schroeder, T F Barth, U Hehr, M Melter, J Vermehren
Identifying rare genetic forms of infantile cholestasis is challenging due to their similar clinical presentation and their diverse etiology. After exclusion of common non-genetic causes a huge list of rare differential diagnosis remains to be solved. More than 90 genes are associated with monogenic forms of infantile cholestasis, thus preventing routine genetic workup by Sanger sequencing. Here we demonstrate a next generation sequencing approach to discover the underlying cause in clinically well characterized patients in whom common causes of infantile cholestasis have been excluded...
October 2015: Molecular and Cellular Probes
Ahmed Shoieb, Norimitsu Shirai
Polycystic kidney disease (PKD) is a cystic genetic disorder of the kidneys which is typically associated with cystic bile duct dilatation in the liver in humans, and domestic and laboratory animals. In humans, there are two types of PKD, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is caused by mutations in PKD1 or PKD2 gene while ARPKD is caused by mutation or loss of the PKHD1 (polycystic kidney and hepatic disease 1) gene. Here we report a morphologically confirmed case of spontaneous PKD in a Sprague-Dawley rat in which anatomic pathology examination revealed numerous cystic changes in the kidney and liver...
May 2015: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
Beatriz Tavira, Juan Gómez, Serafín Málaga, Fernando Santos, Javier Fernández-Aracama, Belén Alonso, Sara Iglesias, Ana Benavides, Inés Hernando, Ana Plasencia, Victoria Alvarez, Eliecer Coto
The Sanger sequencing of patients with recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene. Next generation sequencing (NGS) might thus be of special interest to search for PKHD1 mutations. The study involved a total of 22 patients with autosomal recessive polycystic kidney disease (ARPKD) and 8 parents of non-available ARPKD patients. Five pools of 6 samples each were sequenced with the Personal Genome Machine (PGM, Ion Torrent). For each DNA pool, a total of 109 fragments that covered the entire PKHD1 coding sequence were amplified in only two tubes followed by library preparation and NGS with the PGM...
April 25, 2015: Gene
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