KEGG   VARIANT: 220074v1
Entry
220074v1                      Variant                              
Name
LRTOMT mutation
Type
Loss of function
Gene
LRTOMT  leucine rich transmembrane and O-methyltransferase domain containing [KO:K00545]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612414
Network
nt06544  Neuroactive ligand signaling
Disease
H00605  Deafness, autosomal recessive
Reference
  Authors
Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H
  Title
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
  Journal
Nat Genet 40:1335-40 (2008)
DOI:10.1038/ng.245
Reference
  Authors
Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Muller U, Beutler B
  Title
A catechol-O-methyltransferase that is essential for auditory function in mice and humans.
  Journal
Proc Natl Acad Sci U S A 105:14609-14 (2008)
DOI:10.1073/pnas.0807219105
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