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

作者：Rosado Consolacion^*; Bueno Elena; Fraile Pilar; Garcia Cosmes Pedro; Gonzalez Sarmiento Rogelio

来源：European Journal of Medical Genetics, 2015, 58(1): 35-38.

DOI：10.1016/j.ejmg.2014.10.003

• Alport syndrome
• Autosomal dominant
• COL4A3 gene
• Lenticonus

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.

• 出版日期2015-1