Monogenic hearing loss
Gene: COL4A3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#104200:Alport syndrome, autosomal dominant[Deafness, sensorineural, especially affecting high frequencies; Hypertension; GlomerulonephropathyHematuria, gross and microscopicProteinuriaEnd-stage renal failureThinning of the glomerular basement membrane (early in the disease)Thickening of the glomerular basement membrane (later in the disease)Splitting of the glomerular basement membraneDiffuse lamellation of the glomerular basement membrane; Hematuria, gross and microscopicProteinuria]; #141200:Hematuria, benign familial[Hematuria, microscopicThin glomerular basement membrane]; #203780:Alport syndrome, autosomal recessive[Deafness, sensorineural, especially affecting high frequencies; Anterior lenticonusLens opacitiesCataractsMyopiaPigmentary changes (' flecks' ) in the perimacular regionCorneal endothelial vesiclesCorneal erosions; Hypertension; GlomerulonephropathyEnd-stage renal failureThinning of the glomerular basement membrane (early in the disease)Thickening of the glomerular basement membrane (later in the disease)Splitting of the glomerular basement membraneDiffuse lamellation of the glomerular basement membrane; Hematuria, gross and microscopicProteinuriaNephrotic syndrome]
Publications
COL4A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
COL4A3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert