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Col4a3

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https://www.readbyqxmd.com/read/28632965/frequent-col4-mutations-in-familial-microhematuria-accompanied-by-later-onset-alport-nephropathy-due-to-focal-segmental-glomerulosclerosis
#1
Louiza Papazachariou, Gregory Papagregoriou, Despina Hadjipanagi, Panagiota Demosthenous, Konstantinos Voskarides, Constantina Koutsofti, Kostas Stylianou, Petros Ioannou, Dimitris Xydakis, Ioannis Tzanakis, Antonia Papadaki, Nicolaos Kallivretakis, Nicolaos Nikolakakis, Garyfalia Perysinaki, Daniel P Gale, Athanasios Diamantopoulos, Pavlos Goudas, Dimitris Goumenos, Andreas Soloukides, Ioannis Boletis, Christina Melexopoulou, Eleni Georgaki, Elena Frysira, Fifi Komianou, Dimitrios Grekas, Christos Paliouras, Polichronis Alivanis, George Vergoulas, Alkis Pierides, Eugenios Daphnis, Constantinos Deltas
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using Next Generation Sequencing (NGS) for five genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, nine of them novel...
June 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28570636/alport-syndrome-cold-cases-missing-mutations-identified-by-exome-sequencing-and-functional-analysis
#2
Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà
Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal portion of patients. Here, we applied whole-exome sequencing (WES) in 3 Italian families negative after candidate-gene analyses. In Family 1, we identified a novel heterozygous intronic variant (c.2245-40A>G) -outside the conventionally screened candidate region for diagnosis- potentially disrupting COL4A5 exon29 splicing...
2017: PloS One
https://www.readbyqxmd.com/read/28542346/novel-mutations-in-col4a3-col4a4-and-col4a5-in-chinese-patients-with-alport-syndrome
#3
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymerase chain reaction (PCR)-based approaches. Here, in order to design a rapid and effective method for the genetic diagnosis of AS, we developed a strategy by utilizing targeted capture associated with next-generation sequencing (NGS) to analyze COL4A3, COL4A4, and COL4A5 simultaneously in 20 AS patients...
2017: PloS One
https://www.readbyqxmd.com/read/28476686/mutation-spectrum-of-genes-associated-with-steroid-resistant-nephrotic-syndrome-in-chinese-children
#4
Ying Wang, Xiqiang Dang, Qingnan He, Yan Zhen, Xiaoxie He, Zhuwen Yi, Kuichun Zhu
Approximately 20% of children with idiopathic nephrotic syndrome do not respond to steroid therapy. More than 30 genes have been identified as disease-causing genes for the steroid-resistant nephrotic syndrome (SRNS). Few reports were from the Chinese population. The coding regions of genes commonly associated with SRNS were analyzed to characterize the gene mutation spectrum in children with SRNS in central China. The first phase study involved 38 children with five genes (NPHS1, NPHS2, PLCE1, WT1, and TRPC6) by Sanger sequencing...
August 20, 2017: Gene
https://www.readbyqxmd.com/read/28451395/association-of-col4a3-rs55703767-mmp-9-rs17576-and-timp-1-rs6609533-gene-polymorphisms-with-susceptibility-to-type-2-diabetes
#5
Samira Saravani, Davood Yari, Ramin Saravani, Changiz Azadi Ahmadabadi
Type 2 diabetes (T2D) is defined by high levels of glucose in the blood. The collagen IV level is associated with conditions of hyperglycemia and insulin resistance. Collagen type IV α3 chain (COL4A3) is a structural protein of the extracellular matrix (ECM). Matrix metallopeptidase 9 (MMP-9) is an enzyme that degrades the extracellular matrix and its activity is moderated by TIMP metallopeptidase inhibitor 1 (TIMP-1). The aim of the current study was to examine the association between genetic polymorphisms of COL4A3 (rs55703767), MMP-9 (rs17576) and TIMP-1 (rs6609533) in patients with T2D...
March 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28426651/association-of-candidate-gene-polymorphisms-with-clinical-subtypes-of-preterm-birth-in-a-latin-american-population
#6
Lucas G Gimenez, Allison M Momany, Fernando A Poletta, Hugo B Krupitzki, Juan A Gili, Tamara D Busch, Cesar Saleme, Viviana R Cosentino, Mariela S Pawluk, Hebe Campaña, Enrique C Gadow, Jeffrey C Murray, Jorge S Lopez-Camelo
BACKGROUND: Preterm birth (PTB) is the leading cause of neonatal mortality and morbidity. PTB is often classified according to clinical presentation: Idiopathic (PTB-I), preterm premature rupture of membranes (PTB-PPROM), and medically induced (PTB-M). The aim of this study was to evaluate the associations between specific candidate genes and clinical subtypes of PTB. METHODS: 24 SNPs were genotyped in 18 candidate genes in 709 infant triads. Of them, 243 were PTB-I, 256 PTB-PPROM, and 210 PTB-M...
April 20, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28402931/habp2-p-g534e-variant-in-patients-with-family-history-of-thyroid-and-breast-cancer
#7
Maisa Pinheiro, Sandra Aparecida Drigo, Renata Tonhosolo, Sonia C S Andrade, Fabio Albuquerque Marchi, Igor Jurisica, Luiz Paulo Kowalski, Maria Isabel Achatz, Silvia Regina Rogatto
Familial Papillary Thyroid Carcinoma (PTC) has been described as a hereditary predisposition cancer syndrome associated with mutations in candidate genes including HABP2. Two of 20 probands from families with history of PTC and breast carcinoma (BC) were evaluated by whole exome sequencing (WES) revealing HABP2 p.G534E. Sanger sequencing was used to confirm the involvement of this variant in three families (F1: 7 relatives; F2: 3 and F3: 3). The proband and his sister (with no malignant tumor so far) from F1 were homozygous for the variant whereas one relative with PTC from F2 was negative for the variant...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#8
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
May 2017: Hearing Research
https://www.readbyqxmd.com/read/28249676/murine-recombinant-angiotensin-converting-enzyme-2-attenuates-kidney-injury-in-experimental%C3%A2-alport-syndrome
#9
Eun Hui Bae, Fei Fang, Vanessa R Williams, Ana Konvalinka, Xiaohua Zhou, Vaibhav B Patel, Xuewen Song, Rohan John, Gavin Y Oudit, York Pei, James W Scholey
Angiotensin-converting enzyme 2 (ACE2) is a monocarboxypeptidase in the renin-angiotensin system that catalyzes the breakdown of angiotensin II to angiotensin 1-7. We have reported that ACE2 expression in the kidney is reduced in experimental Alport syndrome but the impact of this finding on disease progression has not been studied. Accordingly, we evaluated effects of murine recombinant ACE2 treatment in Col4a3 knockout mice, a model of Alport syndrome characterized by proteinuria and progressive renal injury...
June 2017: Kidney International
https://www.readbyqxmd.com/read/28236514/familial-hematuria-a-review
#10
REVIEW
Pavlína Plevová, Josef Gut, Jan Janda
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men...
2017: Medicina
https://www.readbyqxmd.com/read/28197741/correlation-between-the-col4a3-mmp-9-and-timp-1-polymorphisms-and-risk-of-keratoconus
#11
Ramin Saravani, Davood Yari, Samira Saravani, Farzaneh Hasanian-Langroudi
PURPOSE: Keratoconus (KC) is thinning of the central cornea. Its etiology is unknown, but it may result from degrading of collagen type IV. The major protein in the cornea is collagen. Matrix metalloproteinase-9 (MMP-9) is able to degrade collagen type IV from the basement membrane and extracellular matrix (ECM). MMP-9 enzymatic activity is inhibited by the tissue inhibitor of metalloproteinase-1 (TIMP-1). In the present study, we sought to investigate and evaluate the effects of single nucleotide polymorphisms in COL4A3, MMP-9, and TIMP-1 on the risk of KC in an Iranian population sample...
May 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28117080/genomic-and-clinical-profiling-of-a-national-nephrotic-syndrome-cohort-advocates-a-precision-medicine-approach-to-disease-management
#12
Agnieszka Bierzynska, Hugh J McCarthy, Katrina Soderquest, Ethan S Sen, Elizabeth Colby, Wen Y Ding, Marwa M Nabhan, Larissa Kerecuk, Shivram Hegde, David Hughes, Stephen Marks, Sally Feather, Caroline Jones, Nicholas J A Webb, Milos Ognjanovic, Martin Christian, Rodney D Gilbert, Manish D Sinha, Graham M Lord, Michael Simpson, Ania B Koziell, Gavin I Welsh, Moin A Saleem
Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with SRNS into monogenic and non-monogenic forms, and further define those groups by detailed phenotypic analysis. Pediatric patients with SRNS were identified via a national United Kingdom Renal Registry. Whole exome sequencing was performed on 187 patients, of which 12% have a positive family history with a focus on the 53 genes currently known to be associated with nephrotic syndrome...
April 2017: Kidney International
https://www.readbyqxmd.com/read/28011711/protective-coding-variants-in-cfh-and-peli3-and-a-variant-near-ctrb1-are-associated-with-age-related-macular-degeneration%C3%A2
#13
Yi Yu, Erin K Wagner, Eric H Souied, Sanna Seitsonen, Ilkka J Immonen, Paavo Häppölä, Soumya Raychaudhuri, Mark J Daly, Johanna M Seddon
Although numerous common age-related macular degeneration (AMD) alleles have been discovered using genome-wide association studies, substantial disease heritability remains unexplained. We sought to identify additional common and rare variants associated with advanced AMD. A total of 4,332 cases and 25,268 controls of European ancestry from three different populations were genotyped using the Illumina Infinium HumanExome BeadChip. We performed meta-analyses to identify associations with common variants, and single variant and gene-based burden tests to identify rare variants...
December 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27942582/pentraxin-2-suppresses-c-jun-ap-1-signaling-to-inhibit-progressive-fibrotic-disease
#14
Naoki Nakagawa, Luke Barron, Ivan G Gomez, Bryce G Johnson, Allie M Roach, Sei Kameoka, Richard M Jack, Mark L Lupher, Sina A Gharib, Jeremy S Duffield
Pentraxin-2 (PTX-2), also known as serum amyloid P component (SAP/APCS), is a constitutive, antiinflammatory, innate immune plasma protein whose circulating level is decreased in chronic human fibrotic diseases. Here we show that recombinant human PTX-2 (rhPTX-2) retards progression of chronic kidney disease in Col4a3 mutant mice with Alport syndrome, reducing blood markers of kidney failure, enhancing lifespan by 20%, and improving histological signs of disease. Exogenously delivered rhPTX-2 was detected in macrophages but also in tubular epithelial cells, where it counteracted macrophage activation and was cytoprotective for the epithelium...
December 8, 2016: JCI Insight
https://www.readbyqxmd.com/read/27904025/early-raas-blockade-exerts-renoprotective-effects-in-autosomal-recessive-alport-syndrome
#15
Nao Uchida, Naonori Kumagai, Kandai Nozu, Xue Jun Fu, Kazumoto Iijima, Yoshiaki Kondo, Shigeo Kure
Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport syndrome, and two mutations in either COL4A3 or COL4A4 causes an autosomal recessive Alport syndrome. Recently, renin-angiotensin-aldosterone system (RAAS) blockade has been shown to attenuate effectively disease progression in Alport syndrome...
2016: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27899308/insight-gained-from-genome-wide-interaction-and-enrichment-analysis-on-weight-gain-during-citalopram-treatment
#16
Henrik Thyge Corfitsen, Antonio Drago
Weight gain is a possible side effect of the pharmacological antidepressant treatments. Defining antidepressant prescriptions based on personal genetic makeups would decrease the risk of weight gain and increase the quality of the current antidepressant pharmacological treatments. 643 depressed, citalopram treated individuals with available clinical and genome-wide genetic information were investigated to identify the molecular pathways associated with weight gain. 111 individuals experienced weight gain during citalopram treatment...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27859054/alport-syndrome-impact-of-digenic-inheritance-in-patients-management
#17
C Fallerini, M Baldassarri, E Trevisson, V Morbidoni, A La Manna, R Lazzarin, A Pasini, G Barbano, A R Pinciaroli, G Garosi, E Frullanti, A M Pinto, M A Mencarelli, F Mari, A Renieri, F Ariani
Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance (DI). Here we present a new series of families with DI and we discuss the consequences for genetic counseling and risk assessment. Out of five families harboring variants in more than one COL4 gene detected by next generation sequencing (NGS), minigene-splicing assay allowed us to identify four as true digenic...
July 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27816395/-alport-syndrome-hereditary-nephropathy-associated-with-mutations-in-genes-coding-for-type-iv-collagen-chains
#18
Laurence Heidet, Marie-Claire Gubler
Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the glomerular basement membranes, a progressive sensorineural hearing loss and sometimes ocular involvement. Its incidence is less than 1 per 5000 individuals and the disease is the cause of about 2% of end stage renal disease in Europe and the United States. Alport syndrome is clinically and genetically heterogeneous. It is related to mutations in the genes encoding one of three chains, α3, α4 α5 of type IV collagen, the main component of basement membranes, expressed in the glomerular basement membrane...
December 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27796712/female-x-linked-alport-syndrome-with-somatic-mosaicism
#19
Kana Yokota, Kandai Nozu, Shogo Minamikawa, Tomohiko Yamamura, Keita Nakanishi, Hisashi Kaneda, Riku Hamada, Yoshimi Nozu, Akemi Shono, Takeshi Ninchoji, Naoya Morisada, Shingo Ishimori, Junya Fujimura, Tomoko Horinouchi, Hiroshi Kaito, Koichi Nakanishi, Ichiro Morioka, Mariko Taniguchi-Ikeda, Kazumoto Iijima
BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies. In females, somatic mosaic variants are rarely reported in XLAS, and it is not clear what determines severity. METHODS: Two females with somatic mosaic mutations in COL4A5 with variant frequencies of 17...
October 31, 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/27678159/regardless-of-etiology-progressive-renal-disease-causes-ultrastructural-and-functional-alterations-of-peritubular-capillaries
#20
Janka Bábíčková, Barbara M Klinkhammer, Eva M Buhl, Sonja Djudjaj, Mareike Hoss, Felix Heymann, Frank Tacke, Jürgen Floege, Jan U Becker, Peter Boor
Progressive renal diseases are associated with rarefaction of peritubular capillaries, but the ultrastructural and functional alterations of the microvasculature are not well described. To study this, we analyzed different time points during progressive kidney damage and fibrosis in 3 murine models of different disease etiologies. These models were unilateral ureteral obstruction, unilateral ischemia-reperfusion injury, and Col4a3-deficient mice, we analyzed ultrastructural alterations in patient biopsy specimens...
January 2017: Kidney International
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