New COL4A5 Mutation Linked to X-linked Alport in Chinese Family

A new genetic variant of the COL4A5 gene was identified in the family of a Chinese boy with atypical X-linked Alport syndrome. The case was reported in the study “Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with…

New Mice Model Mimics Features of Human XLAS

A new mice model carrying a COL4A5 gene mutation that mimics many of the clinical features of human X-linked Alport syndrome was developed by Japanese researchers. These animals can now be used to better understand the underlying metabolic and biochemical mechanisms involved in the development and progression of…

Alport Syndrome Screening in Adults May Be Critical to Enhance Care of Their Offspring, Study Suggests

Atypical presentation of Alport syndrome is common among mothers of children with the disease, researchers reported in a study published in the journal Nephron. This finding suggests that screening for Alport syndrome in those with persistent renal symptoms, in particular those with a family history of renal diseases, may…

Similar Genetic Mutations Could Show that Kidney Disease Types Are Actually Stages of Progression, Study Says

Three different kidney disease types caused by similar genetic alterations may actually represent different stages of disease progression, according to the authors of a study published in Cytogenetic and Genome Research. In the study, “Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV…

New COL4A3 Gene Mutation Linked to Alport Syndrome Identified in Spanish Family

A new genetic mutation in the COL4A3 gene was identified in a Spanish family and linked to the development of Alport syndrome. According to findings reported in the study, “Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene,”…