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

AuthorsRosado, Consolación; Bueno, Elena; Bueno, Elena; García-Cosmes, Pedro; González-Sarmiento, Rogelio
KeywordsAutosomal dominant
COL4A3 gene
Alport syndrome
Issue Date2015
CitationEuropean Journal of Medical Genetics 58(1): 35-38 (2015)
AbstractBilateral 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.
Identifiersdoi: 10.1016/j.ejmg.2014.10.003
e-issn: 1878-0849
issn: 1769-7212
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