title: A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.
abstract: Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease. This mutation is also present in a patient with anterior lenticonus, an observation only found in families with recessive and sex-linked Alport disease.
authors.affiliation: Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain; Department of Nephrology, University Hospital, SACYL, Salamanca, Spain. Electronic address: crosadorubio@hotmail.com.
authors.forename: Consolación
authors.initials: C
authors.lastname: Rosado
authors.affiliation: Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain; IBSAL and IBMCC, University of Salamanca, CSIC and SACYL, Salamanca, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Bueno
authors.affiliation: Department of Nephrology, University Hospital, SACYL, Salamanca, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Fraile
authors.affiliation: Department of Nephrology, University Hospital, SACYL, Salamanca, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: García-Cosmes
authors.affiliation: Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain; IBSAL and IBMCC, University of Salamanca, CSIC and SACYL, Salamanca, Spain. Electronic address: gonzalez@usal.es.
authors.forename: Rogelio
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D000293:Adolescent; D000328:Adult; D001324:Autoantigens / Q000235:genetics*; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D055815:Young Adult
chemical_list: D001324:Autoantigens; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain
keywords: Alport syndrome; Autosomal dominant; COL4A3 gene; Lenticonus