KEGG   VARIANT: 1302v1
Entry
1302v1                      Variant                                
Name
COL11A2 mutation
Gene
COL11A2  collagen type XI alpha 2 chain [KO:K19721]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120290
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H02072  Stickler syndrome
H02079  Oto-spondylo-megaepiphyseal dysplasia
H02080  Fibrochondrogenesis
Reference
  Authors
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ
  Title
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
  Journal
Nat Genet 23:413-9 (1999)
DOI:10.1038/70516
Reference
  Authors
Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH
  Title
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
  Journal
Am J Med Genet A 158A:309-14 (2012)
DOI:10.1002/ajmg.a.34406
Reference
  Authors
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
  Title
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
  Journal
Mol Genet Genomics 290:1327-34 (2015)
DOI:10.1007/s00438-015-0995-9
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