Blast Injuries ; Deafness ; etiology ; Humans

Deafness ; etiology ; Facial Paralysis ; etiology ; Hematologic Diseases ; etiology ; Humans ; Meningitis ; etiology ; Mucocutaneous Lymph Node Syndrome ; complications ; Respiratory Tract Diseases ; etiology ; Urologic Diseases ; etiology

Deafness ; Diabetes Complications ; diagnosis ; epidemiology ; Diabetes Mellitus ; epidemiology ; Hearing Loss ; diagnosis ; etiology ; Humans

Patients with neurofibromatosis type II will eventually succumb to bilateral deafness. For patients with hearing loss, modern medical science technology can provide efficient hearing restoration through a number of various methods. In this article, several hearing restoration methods for patients with neurofibromatosis type II are introduced.
Cochlear Implantation ; Deafness/*etiology/*therapy ; *Hearing Aids ; Humans ; Neurofibromatosis 2/*complications

Adult ; Cochlear Implantation ; Cochlear Implants ; Deafness ; etiology ; surgery ; Humans ; Language Disorders ; complications ; Male

Adolescent ; Adult ; Deafness ; diagnosis ; etiology ; psychology ; Diagnostic Errors ; Female ; Hearing Loss, Sudden ; diagnosis ; Humans ; Male

Adult ; Behcet Syndrome ; complications ; Cochlear Implantation ; Cochlear Implants ; Deafness ; etiology ; rehabilitation ; Humans ; Male ; Treatment Outcome

Deafness ; Hearing Loss/etiology* ; Hearing Loss, Sensorineural ; Humans ; Meningitis, Cryptococcal/diagnosis*

Adolescent ; Adult ; Blast Injuries ; complications ; Deafness ; etiology ; therapy ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Treatment Outcome ; Young Adult

OBJECTIVE: To determine the possible gene mutation and its different sites that leads to hearing loss in a consanguineous marriage pedigree. METHOD: Blood samples from a Changchun pedigree were obtained with informed consent. Their genomic DNA were extracted from peripheral blood and PCR was performed. Nine of hot spot mutations in four most common deafness pathologic gene were detected with the DNA microarray, including GJB2, GJB3, PDS and mtDNA 12S RNA gene. At the same time, the results were confirmed with the traditional methods of sequencing. RESULT: GJB2 gene of 235 delC and 299-300 delAT compound heterozygous mutation was found in propositus. His father was 299-300 delAT homozygous mutation and mother was 235 delC homozygous mutation. In the relatives on the paternal side, the affected patients all were 299-300 delAT homozygous mutation and normal hearing member was 299-300 delAT heterozygous carrier. This GJB2 mutation come from grandparents of consanguineous marriage. CONCLUSION GJB2 gene mutation played on an important role in this deafness family. It is essential approach for genetic diagnosis of non - syndromic sensorineural hearing loss.
Connexin 26 ; Connexins ; genetics ; Consanguinity ; Deafness ; etiology ; genetics ; Female ; Heterozygote ; Humans ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Pedigree ; Young Adult