Modamio-Hoybjor et al. (2003) reported a Spanish family in which hearing loss was initially moderate, mainly affecting low-mid frequencies; it later progressed, involving all frequencies, to a profound hearing loss in the sixth decade. The onset of hearing ... Modamio-Hoybjor et al. (2003) reported a Spanish family in which hearing loss was initially moderate, mainly affecting low-mid frequencies; it later progressed, involving all frequencies, to a profound hearing loss in the sixth decade. The onset of hearing loss was reported to occur in the first decade (6-10 years of age).
Modamio-Hoybjor et al. (2007) identified the CCDC50 gene within the critical linkage area and considered it a candidate gene for DFNA44 hearing loss, given that it is expressed in cochlea. Sequence analysis of all exons and flanking intronic ... Modamio-Hoybjor et al. (2007) identified the CCDC50 gene within the critical linkage area and considered it a candidate gene for DFNA44 hearing loss, given that it is expressed in cochlea. Sequence analysis of all exons and flanking intronic sequences of CCDC50 in an affected subject revealed a heterozygous mutation in exon 11, 1394_1401dupCACGGCAT (611051.0001). CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)-mediated cell signaling that is ubiquitously expressed in different organs and has been suggested to inhibit downregulation of a EGF receptor. Modamio-Hoybjor et al. (2007) suggested that DFNA44 hearing loss may result from a time-dependent disorganization of the microtubule-based cytoskeleton in the pillar cells and stria vascularis of the adult auditory system.