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
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.
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.
