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COL4A5 child infant

Laura Massella, Concetta Gangemi, Kostas Giannakakis, Antonella Crisafi, Tullio Faraggiana, Chiara Fallerini, Alessandra Renieri, Andrea Onetti Muda, Francesco Emma
BACKGROUND AND OBJECTIVES: X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV α5 chain (α5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19...
May 2013: Clinical Journal of the American Society of Nephrology: CJASN
Maja Slajpah, Anamarija Meglic, Polonca Furlan, Damjan Glavac
Alport syndrome is an important hereditary disorder characterized by nephritis and sometimes accompanied by impairment or loss of vision and hearing. The most common form of Alport syndrome is an X-linked dominant trait that has been associated with the gene COL4A5, one of the six types of IV collagen genes. More than 300 different mutations have been identified in the COL4A5 gene, and appear randomly along the whole gene. Three novel mutations, G198E, G3189D and G669R, were found in 5 young patients from 3 different Slovenian families...
September 2005: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Jean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, Mario De Marchi, Gianfranco Rizzoni, Alessandra Renieri, Manfred Weber, Oliver Gross, Kai-Olaf Netzer, Frances Flinter, Yves Pirson, Karin Dahan, Jörgen Wieslander, Ulf Persson, Karl Tryggvason, Paula Martin, Jens Michael Hertz, Cornelis Schröder, Marek Sanak, Maria Fernanda Carvalho, Juan Saus, Corinne Antignac, Hubert Smeets, Marie Claire Gubler
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families...
October 2003: Journal of the American Society of Nephrology: JASN
Fang Wang, Jie Ding, Shunhua Guo, Jiyun Yang
Chinese Alport syndrome (AS) was analyzed in 44 unrelated patients who were screened for mutations in the COL4A5 gene by polymerase chain reaction (PCR)-single-strand conformation polymorphism analysis or PCR direct sequencing in 30 of the 44 patients. The clinical data showed that all patients had hematuria; 25 of 29 male patients (86%) and 9 of 15 female patients (60%) had proteinuria; 11 of 29 male patients (38%) and 1 of 15 female patients (7%) had nephrotic-level proteinuria; 10 of 21 male patients examined (48%) and 1 of 12 female patients examined (8%) had hearing abnormalities...
December 2002: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
H I Cheong, H W Park, I S Ha, Y Choi
Mutational analysis of the COL4A5 gene in X-linked Alport syndrome (AS) requires an expensive and time-consuming procedure with a detection rate of 50%, at best. There have been three multicenter collaborative studies of mutation analysis in the COL4A5 gene using systematic screening of entire coding regions of the gene. This is a similar study executed in a single center in Korea. Twenty-five unrelated Korean patients with AS in whom the diagnosis was confirmed pathologically were included in the study. By systematic screening of all 51 exons of the gene using polymerase chain reaction/single-strand conformation polymorphism analysis, ten mutations were detected in 10 unrelated patients...
February 2000: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
H J Smeets, V V Knoers, L P van de Heuvel, H H Lemmink, C H Schröder, L A Monnens
Increased knowledge of the biochemical composition of the glomerular basement membrane (GBM) and the introduction of molecular genetics has shed new light on the hereditary disorders of the GBM. In this review three disorders are highlighted. About 85% of the cases reported as Alport syndrome are transmitted as the X-linked form and are due to mutations of the COl4A5 chain localized at Xq22. The autosomal recessive form can be explained by mutations in the COl4A3 and COl4A4 gene. Anti-GBM nephritis leading to loss of the renal allograft in about 1%-5% of transplanted Alport patients can be the tragic consequence of this disorder...
December 1996: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
R García-Torres, L Orozco
Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the 5' end and probably includes a second contiguous gene responsible for leiomyomatosis (the DL gene) and even a third one coding for congenital cataract (the CCT gene).
November 1993: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
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