Distribution of Type IV Collagen in the Cochlea in Alport Syndrome
Open Access
- 1 November 2005
- journal article
- case report
- Published by American Medical Association (AMA) in JAMA Otolaryngology–Head & Neck Surgery
- Vol. 131 (11) , 1007-1013
- https://doi.org/10.1001/archotol.131.11.1007
Abstract
Alport syndrome, an inherited progressive renal disease with sensorineural hearing loss (SNHL) and ocular lesions, is caused by mutations in the genes (COL4) that code for the α3, α4, or α5 chains of type IV collagen.1-3 The disease is genetically heterogeneous with X-linked, autosomal recessive and autosomal dominant forms. Most cases (approximately 85%) of Alport syndrome are X-linked and are due to mutations in the COL4A5 gene located on Xq22 that codes for the α5 chain of type IV collagen. More than 300 mutations of the COL4A5 gene producing X-linked Alport syndrome have been reported.Keywords
This publication has 17 references indexed in Scilit:
- Temporal Bone Histopathology in Alport SyndromeThe Laryngoscope, 2004
- Alport's Syndrome, Goodpasture's Syndrome, and Type IV CollagenNew England Journal of Medicine, 2003
- Alport Syndrome: An Inherited Disorder of Renal, Ocular, and Cochlear Basement MembranesMedicine, 1999
- Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndromeHearing Research, 1998
- Role of distinct type IV collagen networks in glomerular development and functionKidney International, 1998
- Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis.Journal of Clinical Investigation, 1997
- Expression of basement membrane type IV collagen chains during postnatal development in the murine cochleaHearing Research, 1996
- Biotin amplification of biotin and horseradish peroxidase signals in histochemical stains.Journal of Histochemistry & Cytochemistry, 1992
- The Etiology of Deafness in Alport's SyndromeJAMA Otolaryngology–Head & Neck Surgery, 1972
- HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITISBMJ, 1927