The Alport syndrome COL4A5 variant database
نویسندگان
چکیده
منابع مشابه
X-linked Alport syndrome caused by splicing mutations in COL4A5.
BACKGROUND AND OBJECTIVES X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism. DESIGN, SETTING, PARTICIP...
متن کاملAlport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.
BACKGROUND The X-linked Alport syndrome (AS) is an inherited nephropathy due to mutations in the COL4A5 gene, encoding the alpha5 chain of type IV collagen, a major component of the glomerular basement membrane (GBM). Here, we report a new kindred with the rare association of X-linked AS and diffuse leiomyomatosis (DL), which is a tumourous process involving smooth muscle cells of the oesophagu...
متن کاملLong-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5
Background: Alport syndrome (AS) is a genetic disease characterized by progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD), sensorineural hearing loss and ocular abnormalities. So far, a lot of mutations were reported in COL4A3, COL4A4 and COL4A5 genes, which are related to AS. Methods: Whole-exome sequencing in combination with AS-related genes filterin...
متن کاملAlport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
BACKGROUND Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. It is a genetically heterogeneous disease with different mutations and forms of inheritance that presents with renal affection, hearing loss and eye defects. Several new mutations related to X-linked forms have been previously determined. METHODS We ...
متن کاملAlport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY
Mutation-induced activation of splice sites in intronic repetitive sequences has contributed significantly to the evolution of exon-intron structure and genetic disease. Such events have been associated with mutations within transposable elements, most frequently in mutation hot-spots of Alus. Here, we report a case of Alu exonization resulting from a 367-nt genomic COL4A5 deletion that did not...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2010
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.21312