Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.653
Abstract: Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis… read more here.
Keywords: col4a5 genes; alport syndrome; mutations col4a3; col4a3 col4a4 ... See more keywords
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/s41439-018-0016-8
Abstract: We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport… read more here.
Keywords: focal segmental; rare causes; col4a5 rare; variants col4a4 ... See more keywords
Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.859521
Abstract: Introduction: Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations. Pathogenic variants in COL4A5 usually cause X-linked Alport syndrome (XLAS), whereas those in… read more here.
Keywords: alport syndrome; col4a4 col4a5; novel variants; col4a3 col4a4 ... See more keywords