A novel DSPPmutation causes dentinogenesis imperfecta type II in a large Mongolian family

BMC Medical Genetics

Research Article

Yujie Chen¹  Qizhu Wu¹  Suya Latu¹  Jiri Mutu¹  Hasi Agula²  Haihua Bai³  Yujing Sun⁴  Changchun Qiu⁴  Wenyu Zhou⁴  Yue Qi⁴ 

[1] Inner Mongolia University for the Nationalities, 028000, Tongliao, China;Inner Mongolia University, 010021, Huhhot, China;Inner Mongolia University, 010021, Huhhot, China;Inner Mongolia University for the Nationalities, 028000, Tongliao, China;National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College (CAMS/PUMC), 5 Dong Dan San Tiao, 100005, Beijing, China;

关键词: Splice Site;    Permanent Tooth;    Chinese Family;    Donor Splice Site;    Unaffected Family Member;   

DOI  :  10.1186/1471-2350-11-23

 received in 2009-05-08, accepted in 2010-02-10,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundSeveral studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China.MethodsWe identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family.ResultsAll affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A→G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals.ConclusionThis study identified a novel mutation (IVS3+3A→G) in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.

【 授权许可】

Unknown   
© Bai et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.