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GENATLAS PHENOTYPE

last update : 24-01-2018

Symbol	DFNA51
Location	9q21.11
Name	neurosensory deafness 51
Corresponding gene	TJP2
Main clinical features	adult-onset, progressive nonsyndromic hearing loss age-related progressive hearing loss
Genetic determination	autosomal dominant
Function/system disorder	ear
Type	disease

Remark(s)

Genotype/Phenotype correlations

overexpression of TJP2 via genomic duplication, leading to modulation of intracellular signaling, and, increasing the susceptibility of inner ear cells to apoptosis, leading to progressive hearing loss (PMID: 20602916))