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https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#1
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29742505/the-col4a3-and-col4a4-digenic-mutations-in-cis-result-in-benign-familial-hematuria-in-a-large-chinese-family
#2
Ang Li, Ying-Xia Cui, Xing Lv, Jian-Hong Liu, Er-Zhi Gao, Xiu-Xiu Wei, Xin-Yi Xia, Chun-Lin Gao, Feng-Xia Liu, Zheng-Kun Xia, Asan, Zhi-Hong Liu, Xiao-Jun Li
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c...
May 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29551517/alport-syndrome-a-unified-classification-of-genetic-disorders-of-collagen-iv-%C3%AE-345-a-position-paper-of-the-alport-syndrome-classification-working-group
#3
Clifford E Kashtan, Jie Ding, Guido Garosi, Laurence Heidet, Laura Massella, Koichi Nakanishi, Kandai Nozu, Alessandra Renieri, Michelle Rheault, Fang Wang, Oliver Gross
Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal disease leading to ESRD, and with extrarenal manifestations such as sensorineural deafness and ocular anomalies. The existing nomenclature for these conditions is confusing and can delay institution of appropriate nephroprotective therapy...
March 15, 2018: Kidney International
https://www.readbyqxmd.com/read/29521606/coincident-myelomeningocele-and-gastroschisis-report-of-2-cases
#4
Jason S Hauptman, Robert Bollo, Rama Damerla, Brian Gibbs, Cecilia Lo, Aviva Katz, Stephanie Greene
Myelomeningocele and gastroschisis, on their own, are both relatively common entities encountered in pediatric surgical care. Coexistence of these pathologies, however, is exceedingly rare. The authors report on 2 patients who presented with myelomeningocele and gastroschisis at birth. They obtained blood for whole-exome analysis for one of the patients and identified 3 mutations that could be related to the underlying anomalies: homozygous mutations in FAM171B and ABCA1 and a hemizygous (X-linked) mutation in COL4A5...
March 9, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29372472/detection-of-copy-number-variations-by-pair-analysis-using-next-generation-sequencing-data-in-inherited-kidney-diseases
#5
China Nagano, Kandai Nozu, Naoya Morisada, Masahiko Yazawa, Daisuke Ichikawa, Keita Numasawa, Hiroyo Kourakata, Chieko Matsumura, Satoshi Tazoe, Ryojiro Tanaka, Tomohiko Yamamura, Shogo Minamikawa, Tomoko Horinouchi, Keita Nakanishi, Junya Fujimura, Nana Sakakibara, Yoshimi Nozu, Ming Juan Ye, Hiroshi Kaito, Kazumoto Iijima
BACKGROUND: Comprehensive genetic approaches for diagnosing inherited kidney diseases using next-generation sequencing (NGS) have recently been established. However, even with these approaches, we are still failing to detect gene defects in some patients who appear to suffer from genetic diseases. One of the reasons for this is the difficulty of detecting copy number variations (CNVs) using our current approaches. For such cases, we can apply methods of array-based comparative genomic hybridization (aCGH) or multiplex ligation and probe amplification (MLPA); however, these are expensive and laborious and also often fail to identify CNVs...
January 25, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29198386/x-linked-glomerulopathy-due-to-col4a5-founder-variant
#6
Moumita Barua, Rohan John, Lorenzo Stella, Weili Li, Nicole M Roslin, Bedra Sharif, Saidah Hack, Ginette Lajoie-Starkell, Andrew L Schwaderer, Brian Becknell, Matthias Wuttke, Anna Köttgen, Daniel Cattran, Andrew D Paterson, York Pei
Alport syndrome is a rare hereditary disorder caused by rare variants in 1 of 3 genes encoding for type IV collagen. Rare variants in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome, which accounts for ∼80% of the cases. Alport syndrome has a variable clinical presentation, including progressive kidney failure, hearing loss, and ocular defects. Exome sequencing performed in 2 affected related males with an undefined X-linked glomerulopathy characterized by global and segmental glomerulosclerosis, mesangial hypercellularity, and vague basement membrane immune complex deposition revealed a COL4A5 sequence variant, a substitution of a thymine by a guanine at nucleotide 665 (c...
March 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29150092/generation-of-integration-free-induced-pluripotent-stem-cell-lines-derived-from-two-patients-with-x-linked-alport-syndrome-xlas
#7
Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya
Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblasts were extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53 shRNA. The generated induced Pluripotent Stem Cell (iPSC) lines AS-FiPS2-Ep6F-28 and AS-FiPS3-Ep6F-9 were free of genomically integrated reprogramming genes, had the specific mutations, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29142990/the-chemical-chaperone-pba-reduces-er-stress-and-autophagy-and-increases-collagen-iv-%C3%AE-5-expression-in-cultured-fibroblasts-from-men-with-x-linked-alport-syndrome-and-missense-mutations
#8
Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige
Introduction: X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations. Methods: Dermal fibroblast cultures were established from 2 affected men and 3 normals. Proliferation rates were examined, the collagen IV α5 chain localized with immunostaining, and levels of the intra- and extracellular chains quantitated with an in-house enzyme-linked immunosorbent assay...
July 2017: KI Reports
https://www.readbyqxmd.com/read/29142939/negative-staining-for-col4a5-correlates-with-worse-prognosis-and-more-severe-ultrastructural-alterations-in-males-with-alport-syndrome
#9
Samar M Said, Mary E Fidler, Anthony M Valeri, Brooke McCann, Wade Fiedler, Lynn D Cornell, Mariam Priya Alexander, Ahmed M Alkhunaizi, Anne Sullivan, Carl H Cramer, Marie C Hogan, Samih H Nasr
Introduction: Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children. Methods: To determine the prognostic value of loss of staining for collagen type IV alpha 5 (COL4A5) and its relationship with the ultrastructural glomerular basement membrane alterations, we performed direct immunofluorescence using a mixture of fluorescein isothiocyanate-conjugated and Texas-red conjugated antibodies against COL4A5 and COL4A2, respectively, on renal biopsies of 25 males with AS (including 16 who were diagnosed in adulthood)...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29098738/urine-derived-podocytes-lineage-cells-a-promising-tool-for-precision-medicine-in-alport-syndrome
#10
Sergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, Chiara Fallerini, Valentina Imperatore, Ilaria Longo, Elisa Frullanti, Elisa Landucci, Laura Massella, Carmine Pecoraro, Guido Garosi, Francesca Ariani, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Anna Maria Pinto
Alport Syndrome (ATS) is a rare genetic disorder caused by collagen IV genes mutations, leading to glomerular basement membrane damage up to end-stage renal disease. Podocytes, the main component of the glomerular structure, are the only cells able to produce all the three collagens IV alpha chains associated with ATS and thus, they are key players in ATS pathogenesis. However, podocytes-targeted therapeutic strategies have been hampered by the difficulty of non-invasively isolating them and transcripts-based diagnostic approaches are complicated by the inaccessibility of other COL4 chains-expressing cells...
February 2018: Human Mutation
https://www.readbyqxmd.com/read/29089023/phenotype-variability-in-a-large-spanish-family-with-alport-syndrome-associated-with-novel-mutations-in-col4a3-gene
#11
C Cervera-Acedo, A Coloma, E Huarte-Loza, M Sierra-Carpio, E Domínguez-Garrido
BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or α5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and autosomal recessive phenotypes, there is very little information about the autosomal dominant...
October 31, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29051380/recent-natural-selection-causes-adaptive-evolution-of-an-avian-polygenic-trait
#12
Mirte Bosse, Lewis G Spurgin, Veronika N Laine, Ella F Cole, Josh A Firth, Phillip Gienapp, Andrew G Gosler, Keith McMahon, Jocelyn Poissant, Irene Verhagen, Martien A M Groenen, Kees van Oers, Ben C Sheldon, Marcel E Visser, Jon Slate
We used extensive data from a long-term study of great tits ( Parus major ) in the United Kingdom and Netherlands to better understand how genetic signatures of selection translate into variation in fitness and phenotypes. We found that genomic regions under differential selection contained candidate genes for bill morphology and used genetic architecture analyses to confirm that these genes, especially the collagen gene COL4A5 , explained variation in bill length. COL4A5 variation was associated with reproductive success, which, combined with spatiotemporal patterns of bill length, suggested ongoing selection for longer bills in the United Kingdom...
October 20, 2017: Science
https://www.readbyqxmd.com/read/29045953/-detection-of-large-deletions-in-x-linked-alport-syndrome-using-competitive-multiplex-fluorescence-polymerase-chain-reaction
#13
F Wang, Y Q Zhang, J Ding, L X Yu
OBJECTIVE: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. METHODS: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type IV collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type IV collagen α5 chain in the glomerular basement membrane and Bowman's capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28992339/stat3-inhibition-attenuates-the-progressive-phenotypes-of-alport-syndrome-mouse-model
#14
Tsubasa Yokota, Kohei Omachi, Mary Ann Suico, Misato Kamura, Haruka Kojima, Ryosuke Fukuda, Keishi Motomura, Keisuke Teramoto, Shota Kaseda, Jun Kuwazuru, Toru Takeo, Naomi Nakagata, Tsuyoshi Shuto, Hirofumi Kai
Background: Alport syndrome (AS) is a hereditary, progressive nephritis caused by mutation of type IV collagen. Previous studies have shown that activation of signal transducer and activator of transcription 3 (STAT3) exacerbates other renal diseases, but whether STAT3 activation exacerbates AS pathology is still unknown. Here we aim to investigate the involvement of STAT3 in the progression of AS. Method: Phosphorylated STAT3 expression was assessed by immunoblotting analysis of kidneys and glomeruli of an AS mouse model (Col4a5 G5X mutant)...
February 1, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28827396/genetic-diagnosis-of-polycystic-kidney-disease-alport-syndrome-and-thalassemia-minor-in-a-large-chinese-family
#15
Yun Miao, Jun Xiong, Xuelian Zhang, Huajie Huang, Lixin Yu, Jianfan Chen, Wenfeng Deng, Huiling Xu, Rumin Liu, Chenglin Xiang, Xiangmin Xu, Fu Xiong
Polycystic kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence in south China. Here, we report an exceptional PKD coincidence of thalassemia minor and AS (diagnosed genetically) in a large Chinese family. Whole genome next-generation sequencing (NGS) was performed on the proband, and all family members underwent clinical evaluation. Sanger sequencing was used to validate the mutations distinguished by NGS...
October 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28776029/genome-wide-signatures-of-complex-introgression-and-adaptive-evolution-in-the-big-cats
#16
Henrique V Figueiró, Gang Li, Fernanda J Trindade, Juliana Assis, Fabiano Pais, Gabriel Fernandes, Sarah H D Santos, Graham M Hughes, Aleksey Komissarov, Agostinho Antunes, Cristine S Trinca, Maíra R Rodrigues, Tyler Linderoth, Ke Bi, Leandro Silveira, Fernando C C Azevedo, Daniel Kantek, Emiliano Ramalho, Ricardo A Brassaloti, Priscilla M S Villela, Adauto L V Nunes, Rodrigo H F Teixeira, Ronaldo G Morato, Damian Loska, Patricia Saragüeta, Toni Gabaldón, Emma C Teeling, Stephen J O'Brien, Rasmus Nielsen, Luiz L Coutinho, Guilherme Oliveira, William J Murphy, Eduardo Eizirik
The great cats of the genus Panthera comprise a recent radiation whose evolutionary history is poorly understood. Their rapid diversification poses challenges to resolving their phylogeny while offering opportunities to investigate the historical dynamics of adaptive divergence. We report the sequence, de novo assembly, and annotation of the jaguar (Panthera onca) genome, a novel genome sequence for the leopard (Panthera pardus), and comparative analyses encompassing all living Panthera species. Demographic reconstructions indicated that all of these species have experienced variable episodes of population decline during the Pleistocene, ultimately leading to small effective sizes in present-day genomes...
July 2017: Science Advances
https://www.readbyqxmd.com/read/28632965/frequent-col4-mutations-in-familial-microhematuria-accompanied-by-later-onset-alport-nephropathy-due-to-focal-segmental-glomerulosclerosis
#17
L Papazachariou, G Papagregoriou, D Hadjipanagi, P Demosthenous, K Voskarides, C Koutsofti, K Stylianou, P Ioannou, D Xydakis, I Tzanakis, A Papadaki, N Kallivretakis, N Nikolakakis, G Perysinaki, D P Gale, A Diamantopoulos, P Goudas, D Goumenos, A Soloukides, I Boletis, C Melexopoulou, E Georgaki, E Frysira, F Komianou, D Grekas, C Paliouras, P Alivanis, G Vergoulas, A Pierides, E Daphnis, C 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 5 genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, 9 of them novel...
November 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28604958/-study-of-a-family-affected-with-focal-segmental-glomerulosclerosis-due-to-mutation-of-col4a5-gene
#18
Jing Zhang, Jing Yang, Zhangxue Hu
OBJECTIVE: To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS). METHODS: Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing. RESULTS: Next-generation sequencing detected a missense mutation (c...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28570636/alport-syndrome-cold-cases-missing-mutations-identified-by-exome-sequencing-and-functional-analysis
#19
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/28546999/a-birth-of-bipartite-exon-by-intragenic-deletion
#20
Kandai Nozu, Kazumoto Iijima, Toru Igarashi, Shiro Yamada, Jana Kralovicova, Yoshimi Nozu, Tomohiko Yamamura, Shogo Minamikawa, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Igor Vorechovsky
BACKGROUND: Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. METHODS: We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. RESULTS: The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome...
May 2017: Molecular Genetics & Genomic Medicine
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