A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 662, Issue 1-2, 2009, Pages 22-27

  Wang, HaoYang ^a   Hou, YanNing ^b   Cui, YingXia ^a   Huang, YuFeng ^a   Shi, YiChao ^a   Xia, XinYi ^a   Lu, HongYong ^a   Wang, YunHua ^a   Li, XiaoJun ^a  

^a JINLING HOSPITAL   (China)

^b NANJING UNIVERSITY OF CHINESE MEDICINE   (China)

Author keywords

Dentin sialophosphoprotein gene; Dentinogenesis imperfecta type II; Splice site mutation

Indexed keywords

DENTIN SIALOPHOSPHOPROTEIN; GENOMIC DNA; PHOSPHOPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINA; CHROMOSOME 4; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DENTIN; DENTIN SIALOPHOSPHOPROTEIN GENE; DENTINOGENESIS IMPERFECTA TYPE II; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTRON; LEUKOCYTE; MALE; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SHORT TANDEM REPEAT; TOOTH MALFORMATION;

ADOLESCENT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DENTINOGENESIS IMPERFECTA; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; HAPLOIDY; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID DENATURATION; PEDIGREE; RNA SPLICE SITES;

EID: 60449088247     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2008.11.019     Document Type: Article

References (29)

1. Witkop C.J. Hereditary defects in enamel and dentin. Acta Genet. Stat. Med. 7 (1957) 236-239
2. Hart P.S., and Hart T.C. Disorders of human dentin. Cells Tissues Organs 186 (2007) 70-77
3. Kim J.W., and Simmer J.P. Hereditary dentin defects. J. Dent. Res. 86 (2007) 392-399
4. MacDougall M., Dong J., and Acevedo A.C. Molecular basis of human dentin diseases. Am. J. Med. Genet. A 140 (2006) 2536-2546
5. George A., Bannon L., Sabsay B., Dillon J.W., Malone J., Veis A., Jenkins N.A., Gilbert D.J., and Copeland N.G. 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. 271 (1996) 32869-32873
6. Yamakoshi Y., Hu J.C., Fukae M., Zhang H., and Simmer J.P. Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera. J. Biol. Chem. 280 (2005) 17472-17479
7. Holappa H., Nieminen P., Tolva L., Lukinmaa P.L., and Alaluusua S. Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. Eur. J. Oral. Sci. 114 (2006) 381-384
8. Kim J.W., Hu J.C., Lee J.I., Moon S.K., Kim Y.J., Jang K.T., Lee S.H., Kim C.C., Hahn S.H., and Simmer J.P. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum. Genet. 116 (2005) 186-191
9. Kim J.W., Nam S.H., Jang K.T., Lee S.H., Kim C.C., Hahn S.H., Hu J.C., and Simmer J.P. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum. Genet. 115 (2004) 248-254
10. Zhang X., Zhao J., Li C., Gao S., Qiu C., Liu P., Wu G., Qiang B., Lo W.H., and Shen Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat. Genet. 27 (2001) 151-152
11. Xiao S., Yu C., Chou X., Yuan W., Wang Y., Bu L., Qian G.F.M., Yang J., Shi Y., Hu L., Han B., Wang Z., Huang W., Liu J., Chen Z., Zhao G., and Kong X. Dentinogenesis imperfecta I with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat. Genet. 27 (2001) 201-204
12. Rajpar M.H., Koch M.J., Davies R.M., Mellody K.T., Kielty C.M., and Dixon M.J. 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. 11 (2002) 2559-2565
13. Malmgren B., Lindskog S., Elgadi A., and Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum. Genet. 114 (2004) 491-498
14. Dong J., Gu T., Jeffords L., and MacDougall M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am. J. Med. Genet. A. 132A (2005) 305-309
15. Song Y., Wang C., Peng B., Ye X., Zhao G., Fan M., Fu Q., and Bian Z. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod. 102 (2006) 360-374
16. Zhang X., Chen L., Liu J., Zhao Z., Qu E., Wang X., Chang W., Xu C., Wang O.K., and Liu M. A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. BMC Med. Genet. 8 (2007) 52
17. Brautigam S., Kujat A., Kirst P., Seidel J., Luleyap H.U., and Froster U.G. DHPLC mutation analysis of phenylketonuria. Mol. Genet. Metab. 78 (2003) 205-210
18. Krawczak M., Reiss J., and Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90 (1992) 41-54
19. Gao K., Masuda A., Matsuura T., and Ohno K. Human branch point consensus sequence is yUnAy. Nucleic Acids Res. 36 (2008) 2257-2267
20. Zhang M.Q. Statistical features of human exons and their flanking regions. Hum. Mol. Genet. 7 (1998) 919-932
21. Di Leo E., Panico F., Tarugi P., Battisti C., Federico A., and Calandra S. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. Hum. Mutat. 24 (2004) 440
22. Kuivenhoven J.A., Weibusch H., Pritchard P.H., Funke H., Benne R., Assmann G., and Kastelein J.J. An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). J. Clin. Invest. 98 (1996) 358-364
23. Maslen C., Babcock D., Raghunath M., and Steinmann B. A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Am. J. Hum. Genet. 60 (1997) 1389-1398
24. Burrows N.P., Nicholls A.C., Richards A.J., Luccarini C., Harrison J.B., Yates J.R., and Pope F.M. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am. J. Hum. Genet. 63 (1998) 390-398
25. Chavanas S., Gache Y., Vailly J., Kanitakis J., Pulkkinen L., Uitto J., Ortonne J., and Menequzzi G. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum. Mol. Genet. 8 (1999) 2097-2105
26. Janssen R.J., Wevers R.A., Häussler M., Luyten J.A., Steenbergen-Spanjers G.C., Hoffmann G.F., Nagatsu T., and Van den Heuvel L.P. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann. Hum. Genet. 64 (2000) 375-382
27. De Klein A., Riegman P.H., Bijlsma E.K., Heldoorn A., Muijtjens M., den Bakker M.A., Avezaat C.J., and Zwarthoff E.C. A G→A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2. Hum. Mol. Genet. 7 (1998) 393-398
28. Sreenath T., Thyagaragan T., Hall B., Longenecker C., D'Souza R., Hong S., Wright J.T., MacDougall M., Sauk J., and Kulkarni A.B. Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J. Biol. Chem. 278 (2003) 24874-24880
29. Paine M.L., Luo W., Wang H.J., Bringas Jr. P., Ngan A.Y., Miklus V.G., Zhu D.H., MacDougall M., White S.N., and Snead M.L. Dentin sialoprotein and dentin phosphoprotein overexpression during amelogenesis. J. Biol. Chem. 280 (2005) 31991-31998