2024-03-29T00:16:43Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/1356722018-09-05T08:56:27Zcom_10261_112com_10261_1col_10261_365
2016-08-19T10:18:08Z
urn:hdl:10261/135672
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers
Rosado, Consolación
Bueno, Elena
Bueno, Elena
García-Cosmes, Pedro
González-Sarmiento, Rogelio
Autosomal dominant
COL4A3 gene
Lenticonus
Alport syndrome
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.
2016-08-19T10:18:08Z
2016-08-19T10:18:08Z
2015
2016-08-19T10:18:09Z
artículo
European Journal of Medical Genetics 58(1): 35-38 (2015)
http://hdl.handle.net/10261/135672
10.1016/j.ejmg.2014.10.003
eng
Sí
closedAccess
Elsevier