Alport syndrome - is there a genotype-phenotype relationship?
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype correlation in X-linked Alport syndrome.
Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations and the underlying mutations adds prognostic value to genetic testing, which is increasingly available. Our aim was to determine the association between genotype and phenotype in 681 affected male participants with XLAS from 175 US families. Hearing loss and ocular c...
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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...
متن کاملNatural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome
Introduction X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity is strongly correlated with genotype. However, the clinical course in female patients has rarely been reported. Methods We condu...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 1997
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/12.8.1551