Autosomal dominant Alport syndrome linked to the type IV collage 3 and 4 genes (COL4A3 and COL4A4)
نویسندگان
چکیده
منابع مشابه
Autosomal dominant Alport syndrome linked to the type IV collage a3 and a4 genes (COL4A3 and COL4A4)
Introduction Background. Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in Alport syndrome is a progressive hereditary nephroyoung adult life and is often associated with sensorineupathy associated with characteristic ultrastructural ral deafness and/or ocular abnormalities. The majority abnormalities of the glomerular basement membrane of families are...
متن کاملCOL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
UNLABELLED COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. BACKGROUND Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). In the latter conditions, however, ...
متن کاملStructure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Mutations in either the COL4A3 or the COL4A4 genes, encoding the alpha3 and alpha4 chains of type IV collagen, are responsible for the autosomal-recessive form of Alport syndrome, a progressive hematuric nephropathy characterized by glomerular basement membrane abnormalities. Reported here are the complete COL4A3 exon-intron structure and a comprehensive screen for mutations of the 52 COL4A3 ex...
متن کاملAutosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss and ocular anomalies. While the X-linked and the autosomal recessive forms are well known, the autosomal dominant form is not well acknowledged. METHODS We have clinically investigated 38 patients with a diagnosis of auto...
متن کاملCOL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.
BACKGROUND Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes, which encode a-3 and a-4 collagen IV chains of the glomerular basement membrane, cochlea and eye. Thin basement membrane nephropathy may affect up to 1% of the population. The pattern of inheritance in the 40% of cases is the s...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 1997
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/12.8.1595