Results 1 to 10 of about 2,868 (133)

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Frontiers in Medicine, 2022
BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Yanqin Zhang
exaly   +3 more sources

Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome [PDF]

Frontiers in Pediatrics
ObjectivesAlport syndrome (AS) is an inherited kidney disorder caused by pathogenic variants in COL4A3, COL4A4, or COL4A5. In this study, we aim to apply a split-luciferase bioluminescence assay to functionally assess COL4A3, COL4A4, or COL4A5 variants ...
Yue Cai, Ying-qi Lin, Xin-yu Kuang, Lei Sun, Meng-ying Li, Yu-jie Hu, Wen-yan Huang   +6 more
doaj   +2 more sources

Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome [PDF]

Human Genomics
Background Alport syndrome (AS) is a hereditary progressive kidney disease caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Aberrant pre-mRNA splicing represents a major disease mechanism in AS, and both synonymous and intronic ...
Lina Wang, Zhi Wang, Yan Zhao, Xuyan Liu, Qiaomei Cui, Shuimi Zhang, Ran Zhang, Leping Shao   +7 more
doaj   +2 more sources

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification

Renal Failure
Background: Variants in the COL4A4 gene have been identified as a significant cause of autosomal Alport syndrome. This study aimed to investigate the genetic features, clinical manifestations, and genotype-phenotype correlations in Chinese children with ...
Yutong Huang, Hongzhou Lin, Huihui Chen, Qifan Zhu, Xinyi Jiang, Xiu-Feng Huang, Dexuan Wang   +6 more
exaly   +3 more sources

Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy [PDF]

Frontiers in Cardiovascular Medicine
An estimated 30%–50% of dilated cardiomyopathy (DCM) cases are attributable to genetic factors, with titin (TTN) mutations constituting the most prevalent genetic etiology, accounting for 20%–25% of hereditary DCM cases.
Shan Han, Ying-Yi Zhang, Jie Geng
doaj   +2 more sources

Clinical features of hearing loss and genotype–phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants [PDF]

Scientific Reports
Alport syndrome (AS) is a genetic disorder characterized by progressive nephritis, hearing loss, and visual impairment. Quantitative analyses of hearing in AS are rare.
Saeko Matsuzaki, Kiyomitsu Nara, Hideki Mutai, Sayaka Katsunuma, Hirokazu Sakamoto, Mizuki Hirose, Naohiro Wakisaka, Nodoka Adachi, Satoshi Asanuma, Masato Fujioka, Tatsuo Matsunaga   +10 more
doaj   +2 more sources

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 FamiliesPlain Language Summary

Kidney Medicine, 2023
Rationale & Objective: Mono-allelic variants in COL4A3 and COL4A4 (COL4A3/COL4A4) have been identified in a spectrum of glomerular basement membrane nephropathies, including thin basement membrane nephropathy and autosomal dominant Alport syndrome ...
Sander Groen in ’t Woud, Ilse M. Rood, Eric Steenbergen, Brigith Willemsen, Henry B. Dijkman, Michel van Geel, Jeroen Schoots, Jack F.M. Wetzels, Dorien Lugtenberg, Jeroen K.J. Deegens, Ernie M.H.F. Bongers   +10 more
doaj   +1 more source

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Molecular Genetics & Genomic Medicine, 2021
Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and ...
Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe   +13 more
doaj   +1 more source

Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family

Frontiers in Genetics, 2022
Background: Chronic kidney disease, a global public health problem, results in kidney damage or a gradual decline in the glomerular filtration rate. Alport syndrome is commonly characterized by chronic glomerulonephritis caused by a structural disorder ...
Ran Du, Ran Du, Ran Du, Jishi Liu, Jishi Liu, Yiqiao Hu, Song Peng, Liangliang Fan, Liangliang Fan, Liangliang Fan, Rong Xiang, Rong Xiang, Rong Xiang, Hao Huang, Hao Huang, Hao Huang   +15 more
doaj   +1 more source

Identification of COL4A4 variants in Chinese patients with familial hematuria

Frontiers in Genetics, 2023
Background: Benign familial hematuria and Alport syndrome are common causes of familial hematuria among children and young adults, which are attributable to variants in the collagen type IV alpha chain genes, COL4A3, COL4A4, or COL4A5.
Yanan Gao, Yanan Gao, Lamei Yuan, Lamei Yuan, Lamei Yuan, Jinzhong Yuan, Yan Yang, Jiangang Wang, Yong Chen, Hao Zhang, Yinze Ai, Hao Deng, Hao Deng, Hao Deng   +13 more
doaj   +1 more source