WebQ829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss J Med Genet . 2002 … WebQ9HC10 - OTOF - Otoferlin - Medical. Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release …
Novel OTOF mutations in Brazilian patients with auditory
WebSep 22, 2013 · OTOF mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be ... Moreno-Pelayo MA, Rodriguez … WebThe p.Q829X mutation is the most frequent mutation of the OTOF gene, and the third most common cause of non-syndromic autosomal recessive hearing loss in the Spanish population (29,52), the second in French and Argentine populations (2,66), and the first in Mexican and English populations (2,26). flathead indian reservation mt
OTOF - What does OTOF stand for? The Free Dictionary
WebFor the detection of the c.2485C4T (p.Q829X) mutation in the OTOF gene, PCR, followed by restriction enzyme BfaI digestion, was carried out. 15 Probands, parents and sibs from the … WebFeb 1, 2024 · Some common alleles in OTOF with founder effect were revealed. For example, p.Q829X accounted for 4.4% of hearing loss in Spain (Migliosi et al., 2002), while the Japanese carried a common variant p.R1939Q (56.5%) (Matsunaga et al., 2012). Similar to our findings, the c.5098G>C was mainly shared by Chinese (Chiu et al., 2010). WebAuditory neuropathy spectrum disorder (ANSD), also called auditory neuropathy (AN), is a unique type of prelingual hearing impairment. Up to 10% of deaf infants and children are … flathead indians images