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

BACKGROUND: Several 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 fro...

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Autores principales: Bai, Haihua, Agula, Hasi, Wu, Qizhu, Zhou, Wenyu, Sun, Yujing, Qi, Yue, Latu, Suya, Chen, Yujie, Mutu, Jiri, Qiu, Changchun
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829541/
https://www.ncbi.nlm.nih.gov/pubmed/20146806
http://dx.doi.org/10.1186/1471-2350-11-23
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author Bai, Haihua
Agula, Hasi
Wu, Qizhu
Zhou, Wenyu
Sun, Yujing
Qi, Yue
Latu, Suya
Chen, Yujie
Mutu, Jiri
Qiu, Changchun
author_facet Bai, Haihua
Agula, Hasi
Wu, Qizhu
Zhou, Wenyu
Sun, Yujing
Qi, Yue
Latu, Suya
Chen, Yujie
Mutu, Jiri
Qiu, Changchun
author_sort Bai, Haihua
collection PubMed
description BACKGROUND: Several 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. METHODS: We 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. RESULTS: All 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. CONCLUSION: This 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.
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spelling pubmed-28295412010-02-28 A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family Bai, Haihua Agula, Hasi Wu, Qizhu Zhou, Wenyu Sun, Yujing Qi, Yue Latu, Suya Chen, Yujie Mutu, Jiri Qiu, Changchun BMC Med Genet Research Article BACKGROUND: Several 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. METHODS: We 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. RESULTS: All 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. CONCLUSION: This 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. BioMed Central 2010-02-10 /pmc/articles/PMC2829541/ /pubmed/20146806 http://dx.doi.org/10.1186/1471-2350-11-23 Text en Copyright ©2010 Bai et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 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.
spellingShingle Research Article
Bai, Haihua
Agula, Hasi
Wu, Qizhu
Zhou, Wenyu
Sun, Yujing
Qi, Yue
Latu, Suya
Chen, Yujie
Mutu, Jiri
Qiu, Changchun
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
title A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
title_full A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
title_fullStr A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
title_full_unstemmed A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
title_short A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
title_sort novel dspp mutation causes dentinogenesis imperfecta type ii in a large mongolian family
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829541/
https://www.ncbi.nlm.nih.gov/pubmed/20146806
http://dx.doi.org/10.1186/1471-2350-11-23
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