Novel missense mutation in the EDA gene in a family affected by oligodontia
| Autor: | Niko C. Bock, Sabine Ruf, Wolfgang Wende, Gisela Ruiz-Heiland, Sarah Jabir, Sonja Blecher |
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| Rok vydání: | 2016 |
| Předmět: |
Genetic Markers
Male 0301 basic medicine Ectodermal dysplasia Mutation Missense Orthodontics Oligodontia Biology Polymorphism Single Nucleotide 03 medical and health sciences Germany medicine Humans Missense mutation Genetic Predisposition to Disease Gene Anodontia Genetics EDARADD Siblings Ectodysplasins medicine.disease 030104 developmental biology Mutation (genetic algorithm) Mutation testing Ectodysplasin A Oral Surgery |
| Zdroj: | Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie. 77:31-38 |
| ISSN: | 1615-6714 1434-5293 |
| Popis: | Mutations in the EDA–EDAR–EDARADD genes and more recently, mutations in the WNT10A gene have been described as the cause of syndromic and nonsyndromic tooth agenesis concomitant with diverse abnormalities of ectodermally derived tissues. In the present investigation, two brothers presenting severe tooth agenesis (oligodontia) concomitant with subtle signs of ectodermal dysplasia (ED) symptoms, as well as six family relatives were analyzed for a causative mutation. Genomic DNA was isolated from saliva, and genetic screening performed via direct sequencing of PCR fragments covering the entire coding regions and the intron–exon junctions of the EDA, EDAR, EDARADD as well as the WNT10A genes. Mutation analysis was conducted using the Mutation Surveyor® Software. We identified a novel G > A mutation located on exon 7 at nucleotide position c.866 in the EDA gene in both patients. The nucleotide change results in a substitution of arginine by histidine (p.Arg289His). According to the programs MutationTaster and PolyPhen2, this mutation is pathogenic. Based on a computerized protein structure analysis, we suggest that the change p.Arg289His in EDA impairs protein stabilization and thus might possibly be involved in the development of oligodontia concomitant with a mild ED phenotype. |
| Databáze: | OpenAIRE |
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