<i>EDA</i> Gene Mutations Underlie Non-syndromic Oligodontia

Song, Seng; Han, Dongyi; Qu, Hong; Gong, Yu-Nong; Wu, Hua; Zhang, X.; Zhong, Nan; Feng, Hailan

doi:10.1177/0022034508328627

Cited by 85 publications

(102 citation statements)

References 21 publications

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“…PAX9 sequence alterations lead to agenesis mainly of molars [15,21] and MSX1 mutations have been implicated primarily in congenitally missing premolars [22,23]. Severe agenesis of both molars and premolars has been noted in patients with an AXIN2 mutation [24] whereas missing incisors are the chief manifestation of EDA-associated non-syndromic oligodontia [20,[25][26][27].…”

Section: Genes Involved In Tooth Development and Differentiationmentioning

confidence: 99%

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Shahid¹,

Joshi²,

Alqhtani³

et al. 2018

Eur J Exp Bio

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Objectives: The main focus of this review article was to collate up to date knowledge with regard to significance of single nucleotide polymorphisms (SNPs) in various genes associated with tooth agenesis. Failure to develop complete set of teeth also called tooth agenesis is a common developmental abnormality manifested mainly as an isolated condition. This anomaly is also associated with many developmental syndromes. Methods:We reviewed the evidence from the literature with regard to SNPs in many genes associated with this developmental anomaly. The information contained in this review deals only with non-syndromic form of tooth agenesis. This condition generally affects third molars or one or few other permanent teeth, however, in some cases its severity is relatively prevalent. Results and Conclusions:Mutations in genes such as Msh homeobox 1 (MSX1), Paired box gene 9 (PAX9), Axis inhibitor protein 2 (AXIN2) and Ectodysplasin A (EDA) have been identified that are associated with the familial form of the disease. It has been shown that the phenotypes associated with these mutations indicate the involvement of more complex mechanisms.Clinical Significance: Evidence collected so far has immense clinical significance to clinical dentists in providing comprehensive guide outlining the role of these gene mutations (SNPs) in various genes and also how the patients affected with this condition will be clinically diagnosed and managed in future.

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Section: Genes Involved In Tooth Development and Differentiationmentioning

confidence: 99%

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Shahid¹,

Joshi²,

Alqhtani³

et al. 2018

Eur J Exp Bio

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“…Mutations in this gene cause X-linked hypohydrotic ectodermal dysplasia which is a rare disease. Non-sense and point mutations occurring in EDA gene cause only hypo/oligodontia which is non syndromic tooth agenesis [24].…”

Section: Eda1 Genementioning

confidence: 99%

Role of Homeobox Genes in Tooth Morphogenesis: A Review

Suryadeva¹

2015

JCDR

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“…EDA is a trimeric type II transmembrane protein that can release the trimer TNF core domain, which can then bind its receptor ectodysplasin-A receptor (EDAR) (Chen et al, 2001). A previous study demonstrated that the TNF homology domain is crucial for the structure and function of the EDA protein (Song et al, 2009). This domain is located at the C-terminal end of the protein and is composed of 10 predicted antiparallel β-sheets, which are necessary for the binding of EDA to EDAR (Ezer et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia

Tan

et al. 2015

Genet. Mol. Res.

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ABSTRACT. This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the family was sequenced. The detected mutation in EDA was investigated in 120 normal controls. A missense mutation (c.878T>G) in EDA was detected in 2 patients and 3 female carriers, but not in 4 unaffected members of the family. The mutation was not found in the 120 healthy controls and has not been reported previously. Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations.

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EDA Gene Mutations Underlie Non-syndromic Oligodontia

Cited by 85 publications

References 21 publications

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis

Role of Homeobox Genes in Tooth Morphogenesis: A Review

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia

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