Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....

This paper reports a case of sudden bilateral deafness as the first symptom of gastric cancer, an extremely rare and atypical clinical situation. Because common signs of stomach cancer were absent, the patient was first evaluated in the Department of Otolaryngology, University Hospital Center, Zagreb. Only after expanded diagnostic evaluation and rapid progression of the disease in such a case ...

P rogressive hearing loss is a significant problem in all ageing populations. By the age of 80 years, nearly 50% of individuals have hearing loss that impairs their ability to communicate easily, leading to increasing social isolation. Progressive hearing loss in middle and late adulthood is considered multifactorial, with involvement of both genetic and environmental factors. In contrast, chil...

Anterior lenticonus is a rare condition in which there is a conical forward protrusion of the axial portion of the anterior capsule of the lens and anterior cortex which usually remains clear. The nucleus is not involved, indicating that the anomaly develops relatively late. Males are more commonly affected than females and in most cases both eyes are involved. Some of the cases reported in the...

Different strains of mice provide a valuable research tool for studying both hereditary and acquired forms of deafness. The cd/1 strain has been found to demonstrate hereditary cochlear pathology. The characteristics of hearing loss in cd/1 mice have not previously been reported. In this investigation auditory thresholds were obtained by measuring evoked brain stem responses in subjects of thre...

Congenital hearing loss has been documented to occur in 1 of 1000 live births, with over half of these cases predicted to be hereditary in nature. 2 Most hereditary hearing loss is inherited in a recessive manner, accounting for approximately 85% of non-syndromic hearing loss (NSHL). Deafness is an extremely genetically heterogeneous disorder, shown by the fact that 33 loci for recessive NSHL a...

Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of non-syndromic sensorineural hearing loss cases in some populations. Therefore, cochlear CX26-gap junction plaque (GJP)-forming cells such as cochlear supporting cells are thought to be the most important therapeutic target for the ...