期刊
JOURNAL OF DENTAL RESEARCH
卷 92, 期 6, 页码 507-511出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0022034513487210
关键词
exome sequencing; EDA gene; hypodontia/oligodontia; mutation; X-chromosome inactivation
资金
- Targeted Financing from the Estonian Ministry of Education and Research [SF0180142s08, SF0180026s09]
- EU [313010]
- Estonian Science Foundation [ETF7076]
- Development Fund of the University of Tartu [SP1GVARENG]
- European Regional Development Fund [3.2.0304.11-0312]
Mutations in the ectodysplasin-A (EDA) gene have been generally associated with X-linked hypohidrotic ectodermal dysplasia (XLHED). Recently, missense mutations in EDA have been reported to cause familial non-syndromic tooth agenesis. In this study, we report a novel EDA mutation in an Estonian family segregating non-syndromic tooth agenesis with variable expressivity. Affected individuals had no associated defects in other ectodermal organs. Using whole-exome sequencing, we identified a heterozygous nonsense mutation c.874G>T (p.Glu292X) in the TNF homology domain of EDA in all affected female patients. This protein-altering variant arose de novo, and the potentially causative allele was transmitted to affected offspring from the affected mother. We suggest that the dental phenotype variability described in heterozygous female carriers of EDA mutation may occur because of the differential pattern of X-chromosome inactivation, which retains reduced levels of EDA-receptor signaling in tissues involved in tooth morphogenesis. This results in selective tooth agenesis rather than XLHED phenotype. The present study broadens the mutation spectrum for this locus and demonstrates that EDA mutations may result in non-syndromic tooth agenesis in heterozygous females.
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