Target exon-sequencing using MPS was proven to be a powerful new clinical diagnostic tool for the identification of rare causative genes such as ACTG1. The present clinical findings not only confirmed those previous reports but also provided important new clinical information.
Targeted exon resequencing of selected genes using NGS successfully identified mutations in the relatively rare deafness gene, COCH, in the Japanese population. The phenotype is compatible with that described in previous reports. Additional supporting evidence concerning progressive hearing loss and deterioration of vestibular function was obtained from our study.
ConclusionThe surface template-assisted marker positioning (STAMP) method is useful for successful Bonebridge™ (BB) implantation on a planned site while avoiding dangerous positions.ObjectivesTo confirm the usefulness of the STAMP method for the safe operation of BB.MethodsFrom a patient’s temporal bone CT data, a guide plate and confirmation plate were generated by the STAMP method. The guide plate is used to mark the correct place for implantation, while the confirmation plate lets us know the correct angle and depth of the hole.ResultsWith the guide plate, the correct place for BB implantation was easily found. The hole was made to be an appropriate size with the confirmation plate while exposing only a small part of sigmoid sinus as simulated. Finally, the BB implant was successfully placed exactly at the planned site.
Hearing loss caused by mutations in the LRTOMT gene is extremely rare. This is the first case report of a compound heterozygous mutation in a nonconsanguineous family.
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