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GENATLAS PHENOTYPE
last update : 23/06/2006
Symbol DFNB28
Location 22q13.1
HGNC id 2834
Name neurosensory deafness 28
Corresponding gene TRIOBP
Main clinical features
  • prelingual, profound sensorineural, non syndromic, overlapping the DFNA17 region
    • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Gene product
    Name Tara-like protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     nonsense (Q297X, R788X, R1068X, and R1117X) and frameshift (D1069fsX1082 and R1078fsX1083) mutations, all located in exon 6
    frameshift