The GJB2 gene(connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hear...The GJB2 gene(connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects(Group 3). We found that, in Group 1, 65 patients(13.32%) were homozygotes or compound heterozygotes and 51 patients (10.45%) carried a single pathogenic mutation. The 235delC mutation was the most frequent mutation, accounting for 73.22% of the known pathogenic alleles in Group 1. No homozygotes or compound heterozygotes were detected in Group 2 or Group 3. Some postlingual deaf patients (2.42%) and normal hearing subjects(4.27%) were 235delC carriers. Our preliminary data indicate that 235delC, the most frequent mutation identified in this study, is a major cause for prelingual deafness.展开更多
The OTOF gene(GenBank AF183185.1)encodes otoferlin,a protein essential for vesicle fusion,synaptic exocytosis,and vesicle replenishment at cochlear inner hair cell synapses,where it functions as a calcium sensor.1 A d...The OTOF gene(GenBank AF183185.1)encodes otoferlin,a protein essential for vesicle fusion,synaptic exocytosis,and vesicle replenishment at cochlear inner hair cell synapses,where it functions as a calcium sensor.1 A deficiency in otoferlin results in impaired synaptic neurotransmitter release and vesicle recycling,1,2 accompanied by a significant reduction in inner hair cell synapse counts,ultimately leading to prelingual auditory neuropathy spectrum disorder(DFNB9:OMIM 60381).展开更多
It has been almost 35 years since the editor of this issue,Dr.Richard Miyamoto,introduced me to the child who would be my first pediatric cochlear implant (CI) patient.Dr.Miyamoto had hired me as part of his co-invest...It has been almost 35 years since the editor of this issue,Dr.Richard Miyamoto,introduced me to the child who would be my first pediatric cochlear implant (CI) patient.Dr.Miyamoto had hired me as part of his co-investigator team at Indiana University School of Medicine.He had implanted many adults over the previous 5 years,but entering into the world of pediatric cochlear implantation was truly a remarkable frontier.That first child,implanted with a single-channel House 3M device,taught me a great deal about how electrically-evoked hearing could contribute to the development of speech,language and literacy in a deaf child.Since that time,Dr.Miyamoto and I have a combined experience working with over two thousand children with CIs,and each one has taught us something unique.展开更多
文摘The GJB2 gene(connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects(Group 3). We found that, in Group 1, 65 patients(13.32%) were homozygotes or compound heterozygotes and 51 patients (10.45%) carried a single pathogenic mutation. The 235delC mutation was the most frequent mutation, accounting for 73.22% of the known pathogenic alleles in Group 1. No homozygotes or compound heterozygotes were detected in Group 2 or Group 3. Some postlingual deaf patients (2.42%) and normal hearing subjects(4.27%) were 235delC carriers. Our preliminary data indicate that 235delC, the most frequent mutation identified in this study, is a major cause for prelingual deafness.
基金supported by the Basic Science Research Program through the National Research Foundation(NRF),funded by the Ministry of Education of South Korea(No.2021R1A2C2092038 to Choi.B.Y.,2022R1I1A3072036 to Yi,E.)in part by Glocal University Project of Mokpo National University in 2024(to Yi,E.)+3 种基金the Bio Core Facility center program through the NRF(South Korea)(No.2022M3A9G1014007 to Choi,B.Y.)provided by the Basic Research Laboratory Program through the NRF,funded by the Ministry of Education of South Korea(No.RS-2023-0021971031482092640001 to Choi,B.Y.)the Technology Innovation Program(K_G012002572001 to Choi.B.Y.)funded By the Ministry of Trade,Industry and Energy.This study is also funded by SNUBH intramural research fund(South Korea)(No.13-2022-0010,02-2017-0060,16-2023-0002,13-2023-0002,16-2022-0005,13-2024-0004,and 13-2017-0013 to Choi.B.Y.)the SNUBH-Basic Co-Research Fund(South Korea)(No.16-2024-0011).
文摘The OTOF gene(GenBank AF183185.1)encodes otoferlin,a protein essential for vesicle fusion,synaptic exocytosis,and vesicle replenishment at cochlear inner hair cell synapses,where it functions as a calcium sensor.1 A deficiency in otoferlin results in impaired synaptic neurotransmitter release and vesicle recycling,1,2 accompanied by a significant reduction in inner hair cell synapse counts,ultimately leading to prelingual auditory neuropathy spectrum disorder(DFNB9:OMIM 60381).
文摘It has been almost 35 years since the editor of this issue,Dr.Richard Miyamoto,introduced me to the child who would be my first pediatric cochlear implant (CI) patient.Dr.Miyamoto had hired me as part of his co-investigator team at Indiana University School of Medicine.He had implanted many adults over the previous 5 years,but entering into the world of pediatric cochlear implantation was truly a remarkable frontier.That first child,implanted with a single-channel House 3M device,taught me a great deal about how electrically-evoked hearing could contribute to the development of speech,language and literacy in a deaf child.Since that time,Dr.Miyamoto and I have a combined experience working with over two thousand children with CIs,and each one has taught us something unique.
