Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
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چکیده
منابع مشابه
Alport 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 کاملX-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 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 کاملSomatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
BACKGROUND Alport syndrome is the most common form of hereditary nephritis and is mainly caused by mutations in the COL4A5 gene, which shows the X-linked form. It is well known that some male Alport syndrome cases show a relatively mild phenotype, but few molecular investigations have been conducted to clarify the mechanism of this phenotype. Methods and results. This report concerns an 8-year-...
متن کاملMeta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.
BACKGROUND Alport syndrome (AS) is a hereditary nephropathy characterized by progressive renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene encoding the alpha 5-chain of type IV collagen have been described, establishing the molecular cause of AS. The goal of the present study was to identify the genotype-phenotype correlations that are helpful in clinical cou...
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ژورنال
عنوان ژورنال: Clinical Medicine Insights: Pediatrics
سال: 2012
ISSN: 1179-5565,1179-5565
DOI: 10.4137/cmped.s7509