Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.

摘要

Pendred syndrome (PDS; OMIM #274600) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with inner ear malformations and goiter, although the thyroid symptoms are variable [Reardon et al., 1999]. PDS is estimated to account for 5% of childhood deafness, rising to 7% in adults since it is usually diagnosed only after the onset of goiter [Fraser, 1976]. The hearing loss is typically bilateral, severe to profound, and prelingual [Fraser, 1976]. However, in some cases, patients show progressive and/or postlingual hearing impairment [Reardon et al., 1997]. In about 50% of the probands from multiplex families, mutations in the SLC26A4 gene, encoding pendrin, are the cause of the disease [Everett et al., 1997]. SLC26A4 is also involved in DFNB4 (MIM #600791), that is, nonsyndromic recessive deafness associated with enlarged vestibular aqueduct (EVA) [Li et al, 1998].