Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II

European Journal of Oral Sciences

Volumn 114, Issue 5, 2006, Pages 381-384

  Holappa, Heidi ^a   Nieminen, Pekka ^a,b,c   Tolva, Liisa ^a   Lukinmaa, Pirjo Liisa ^a,c   Alaluusua, Satu ^a,c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Dentinogenesis imperfecta type II; DSPP; Mutation; SNP

Indexed keywords

DENTIN SIALOPHOSPHOPROTEIN; DSPP PROTEIN, HUMAN; PHOSPHOPROTEIN; SCLEROPROTEIN; SIALOGLYCOPROTEIN;

ARTICLE; CHILD; CONGENITAL MALFORMATION; DENTIN; DNA SEQUENCE; EXON; FINLAND; GENETIC LINKAGE; GENETIC MARKER; GENETICS; HUMAN; MALE; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; QUESTIONNAIRE; TOOTH MALFORMATION;

CHILD; DENTIN; DENTINOGENESIS IMPERFECTA; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FINLAND; GENETIC LINKAGE; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOPROTEINS; QUESTIONNAIRES; SEQUENCE ANALYSIS, DNA; SIALOGLYCOPROTEINS;

EID: 33749519573     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2006.00391.x     Document Type: Article

References (12)

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. WITKOP CJ. Manifestations of genetic diseases in the human pulp. Oral Surg 1971; 32: 278-316.
3. MACDOUGALL M, SIMMONS D, LUAN X, NYDEGGER J, FENG J, GU TT. Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. J Biol Chem 1997; 272: 835-842.
4. FISHER LW, TORCHIA DA, FOHR B, YOUNG MF, FEDARKO NS. Flexible structures of sibling proteins, bone sialoprotein, and osteopontin. Biochem Biophys Res Commun 2001; 280: 460-465.
5. 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.
6. ZHANG X, ZHAO J, LI C, GAO S, QIU C, LIU P, WU G, QIANG B, LO W, SHEN Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 2001; 27: 151-152.
7. KIM JW, NAM SH, JANG KT, LEE SH, KIM CC, HAHN SH, HU JC-C, SIMMER JP. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 2004; 115: 248-254.
8. 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.
9. KIM JW, HU JCC, LEE JI, MOON SK, KIM YJ, JANG KT, LEE S-H, KIM C-C, HAHN S-H, SIMMER JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 2005; 116: 186-191.
10. RAJPAR MH, KOCH MJ, DAVIES RM, MELLODY KT, KIELTY CM, DIXON MJ. Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 2002; 11: 2559-2565.
11. DONG J, GU TT, JEFFORDS L, MACDOUGALL M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am J Med Genet 2005; 132A: 305-309.
12. SOBEL E, LANGE K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996; 58: 1323-1337.