De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family

European Journal of Oral Sciences

Volumn 117, Issue 6, 2009, Pages 691-694

  Kida, Miyuki ^a   Tsutsumi, Tomonori ^b   Shindoh, Masanobu ^c   Ikeda, Hisami ^d   Ariga, Tadashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Hinode Dental Office Makomanai   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d JAPANESE RED CROSS SOCIETY   (Japan)

Author keywords

Dentin sialophosphoprotein (DSPP); Dentinogenesis imperfecta; Dentinogenesis imperfecta type II (DGI II); Mutation

Indexed keywords

ADENOSINE; ASPARTIC ACID; DENTIN SIALOPHOSPHOPROTEIN; NUCLEOTIDE; PHOSPHOPROTEIN; SCLEROPROTEIN; SIALOGLYCOPROTEIN; THYMINE; VALINE;

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CLASSIFICATION; CODON; DOMINANT GENE; EXON; GENETICS; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; TOOTH MALFORMATION;

ADENOSINE; ADULT; ALLELES; AMINO ACID SEQUENCE; ASPARTIC ACID; CHILD, PRESCHOOL; CODON; CONSERVED SEQUENCE; DENTINOGENESIS IMPERFECTA; EXONS; EXTRACELLULAR MATRIX PROTEINS; GENES, DOMINANT; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; NUCLEOTIDES; PEDIGREE; PHOSPHOPROTEINS; SIALOGLYCOPROTEINS; THYMINE; VALINE;

EID: 73149083242     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2009.00683.x     Document Type: Article

References (21)

1. Shields ED, Bixler D, El-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 1973 18 : 543 553.
2. Kim JW, Simmer JP. Hereditary dentin defects. J Dent Res 2007 86 : 392 399.
3. Witkop CJ. Hereditary defects in enamel and dentin. Acta Genet Stat Med 1957 7 : 236 239.
4. Witkop CJ. Manifestations of genetic diseases in the human pulp. Oral Surg Oral Med Oral Pathol 1971 32 : 278 316.
5. Yamakoshi Y, Hu JC, Fukae M, Zhang H, Simmer JP. Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera. J Biol Chem 2005 280 : 17472 17479.
6. Veis A. Mineral-matrix interactions in bone and dentin. J Bone Miner Res 1993 8 : 493 497.
7. George A, Bannon L, Sabsay B, Dillon JW, Malone J, Veis A, Jenkins NA, Gilbert DJ, Copeland NG. The carboxyl-terminal domain of phosphophoryn contains unique extended triplet amino acid repeat sequences forming ordered carboxyl-phosphate interaction ridges that may be essential in the biomineralization process. J Biol Chem 1996 271 : 32869 32873.
8. Butler WT. Dentin matrix proteins. Eur J Oral Sci 1998 106 : 204 210.
9. Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 2004 115 : 248 254.
10. Oliveira RJ, Hammer B, Stillman A, Holm J, Jons C, Margolis RH. A look at ear canal changes with jaw motion. Ear Hear 1992 13 : 464 466.
11. Lawrence HP, Garcia RI, Essick GK, Hawkins R, Krall EA, Spiro A III., Vokonas PS, Kong L, King T, Koch GG. A longitudinal study of the association between tooth loss and age-related hearing loss. Spec Care Dentist 2001 21 : 129 140.
12. Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 2005 116 : 186 191.
13. Zhang X, Chen L, Liu J, Zhao Z, Qu E, Wang X, Chang W, Xu C, Wang QK, Liu M. A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a Chinese family. BMC Med Genet 2007 8 : 52 57.
14. 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. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 2001 27 : 201 204.
15. Holappa H, Nieminen P, Tolva L, Lukinmaa PL, Alaluusua S. Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. Eur J Oral Sci 2006 114 : 381 384.
16. Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 102 : 360 374.
17. Lee SK, Lee KE, Jeon D, Lee G, Lee H, Shin CU, Jung YJ, Lee SH, Hahn SH, Kim JW. A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. J Dent Res 2009 88 : 51 55.
18. Burstone MS. The ground substance of abnormal dentin, secondary dentin, and pulp calcifications. J Dent Res 1953 32 : 269 279.
19. Wright JT, Gantt DG. The ultrastructure of the dental tissues in dentinogenesis imperfecta in man. Arch Oral Biol 1985 30 : 201 206.
20. Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet 2004 114 : 491 498.
21. Cauwels RG, De Coster PJ, Mortier GR, Marks LA, Martens LC. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? J Oral Pathol Med 2005 34 : 444 446.