KEGG   VARIANT: 4646v1
Entry
4646v1                      Variant                                
Name
MYO6 mutation
Type
Loss of function
Gene
MYO6  myosin VI [KO:K10358]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600970
Network
nt06541  Cytoskeleton in neurons
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
Reference
  Authors
Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER
  Title
Mutations of MYO6 are associated with recessive deafness, DFNB37.
  Journal
Am J Hum Genet 72:1315-22 (2003)
DOI:10.1086/375122
Reference
  Authors
Hilgert N, Topsakal V, van Dinther J, Offeciers E, Van de Heyning P, Van Camp G
  Title
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
  Journal
Eur J Hum Genet 16:593-602 (2008)
DOI:10.1038/sj.ejhg.5202000
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