COL4A3

COL4A3

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Past medical history includes adulthood onset, autosomal recessive type AS, due to a missense mutation in the COL4A3 gene, with development of severe renal insufficiency, hypertension, anterior lenticonus and mild sensorineural deafness for 4 years.
Screening of the COL4A3 gene and finding a novel causative gene for TBMN will help clarify the pathogenesis of this disorder and perhaps for distinguishing TBMN from Alport syndrome.
Heterozygous mutations have been shown to occur in COL4A3 and COL4A4, which are important parts of the framework for the basement membrane (8-15).
Apparently, mutations in the COL4A3 or COL4A4 genes result in a clinical spectrum of disease, ranging from TBMN to autosomal dominant or recessive Alport syndrome depending on the nature of the mutation and gene dosage (9).
Because of the low detection rate of SSCP analysis, it may underestimate the frequency of COL4A3 and COL4A4 mutations in patients with TBMN.
The low mutation yield can be attributed to mutations in the COL4A3 gene and possibly other genes.
Lmx1b regulates the expression of COL4A3 and COL4A4 genes, as well as NPHS2, the gene encoding for podocin, and its mutated form is associated with abnormal deposition of collagen in the GBM, impaired podocyte differentiation, and development of mesangial and segmental sclerosis.
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
Autosomal-recessive patients have mutation(s) in either COL4A3 or COL4A4 genes situated on chromosome 2.
Alport Syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4 or COL4A5 genes which impacts the body's ability to create a specific type of collagen highly expressed in the kidney and essential to normal kidney structure.
Alport Syndrome is a genetic condition caused by mutations in the COL4A3, COL4A4, and COL4A5 genes that is characterized by kidney disease, hearing loss, and eye abnormalities.