A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers

Consolación Rosado; Elena Bueno; Pilar Fraile; Pedro García-Cosmes; Rogelio González-Sarmiento

doi:10.1016/j.ejmg.2014.10.003

A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers

Eur J Med Genet. 2015 Jan;58(1):35-8. doi: 10.1016/j.ejmg.2014.10.003. Epub 2014 Oct 28.

Authors

Consolación Rosado¹, Elena Bueno², Pilar Fraile³, Pedro García-Cosmes³, Rogelio González-Sarmiento⁴

Affiliations

¹ Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain; Department of Nephrology, University Hospital, SACYL, Salamanca, Spain. Electronic address: crosadorubio@hotmail.com.
² Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain; IBSAL and IBMCC, University of Salamanca, CSIC and SACYL, Salamanca, Spain.
³ Department of Nephrology, University Hospital, SACYL, Salamanca, Spain.
⁴ 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.

PMID: 25450602
DOI: 10.1016/j.ejmg.2014.10.003

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.

Keywords: Alport syndrome; Autosomal dominant; COL4A3 gene; Lenticonus.

Publication types

Case Reports

MeSH terms

Adolescent
Adult
Autoantigens / genetics*
Collagen Type IV / genetics*
Female
Hearing Loss / genetics*
Humans
Middle Aged
Mutation*
Nephritis, Hereditary / genetics*
Young Adult

Substances

Autoantigens
Collagen Type IV
type IV collagen alpha3 chain