KEGG   VARIANT: 1834v1
Entry
1834v1                      Variant                                
Name
DSPP mutation
Type
Loss of function
Gene
DSPP  dentin sialophosphoprotein [KO:K23573]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125485
Network
nt06548  Integrin signaling
Disease
H00432  Hereditary dentine disorders
H00604  Deafness, autosomal dominant
H02348  Dentin dysplasia
Reference
  Authors
Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X
  Title
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
  Journal
Nat Genet 27:201-4 (2001)
DOI:10.1038/84848
Reference
  Authors
Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ
  Title
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
  Journal
Hum Mol Genet 11:2559-65 (2002)
DOI:10.1093/hmg/11.21.2559
Reference
  Authors
Alhilou A, Beddis HP, Mighell AJ, Durey K
  Title
Dentin dysplasia: diagnostic challenges.
  Journal
BMJ Case Rep 2018:bcr-2017-223942 (2018)
DOI:10.1136/bcr-2017-223942
Reference
  Authors
Zhang X, Chen L, Liu J, Zhao Z, Qu E, Wang X, Chang W, Xu C, Wang QK, Liu M
  Title
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
  Journal
BMC Med Genet 8:52 (2007)
DOI:10.1186/1471-2350-8-52
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