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EDA gene mutations underlie non-syndromic oligodontia.

作者信息

Song S, Han D, Qu H, Gong Y, Wu H, Zhang X, Zhong N, Feng H

机构信息

Department of Medical Genetics, Peking University Health Science Center, Beijing, China.

出版信息

J Dent Res. 2009 Feb;88(2):126-31. doi: 10.1177/0022034508328627.

DOI:10.1177/0022034508328627
PMID:19278982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3317984/
Abstract

Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.

摘要

相似文献

[1]
EDA gene mutations underlie non-syndromic oligodontia.

J Dent Res. 2009-2

[2]
Oligodontia and curly hair occur with ectodysplasin-a mutations.

J Dent Res. 2014-1-31

[3]
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.

Eur J Med Genet. 2011

[4]
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Arch Dermatol Res. 2009-9

[5]
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

J Dent Res. 2013-4-19

[6]
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

Oral Dis. 2015-11

[7]
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

J Dent Res. 2013-4-26

[8]
A common founder mutation in the EDA-A1 gene in X-linked hypodontia.

Dermatology. 2010

[9]
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.

Eur J Oral Sci. 2008-10

[10]
EDA mutation by exome sequencing in non-syndromic X-linked oligodontia.

Clin Genet. 2017-8

引用本文的文献

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[2]
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Genes (Basel). 2025-1-24

[3]
Mutations Causing X-Linked Recessive Oligodontia with Variable Expression.

Genes (Basel). 2024-12-26

[4]
Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.

Int J Mol Sci. 2024-9-27

[5]
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Diagnostics (Basel). 2024-4-30

[6]
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

BMC Oral Health. 2024-1-27

[7]
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.

Hum Genome Var. 2024-1-23

[8]
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.

Mol Genet Genomic Med. 2023-12

[9]
The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.

Front Genet. 2023-4-3

[10]
PAX9 mutations and genetic synergism in familial tooth agenesis.

Ann N Y Acad Sci. 2023-6

本文引用的文献

[1]
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

Am J Med Genet A. 2007-2-15

[2]
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.

Int J Paediatr Dent. 2007-1

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A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

J Hum Genet. 2006

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Novel MSX1 frameshift causes autosomal-dominant oligodontia.

J Dent Res. 2006-3

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A meta-analysis of the prevalence of dental agenesis of permanent teeth.

Community Dent Oral Epidemiol. 2004-6

[6]
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

Am J Hum Genet. 2004-5

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The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity.

Structure. 2003-12

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Ectodysplasin signaling in development.

Cytokine Growth Factor Rev. 2003

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Mutational analysis of families affected with molar oligodontia.

Connect Tissue Res. 2002

[10]
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

J Biol Chem. 2001-6-1

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