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Published in: Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie 1/2016

01-01-2016 | Original Article

Novel missense mutation in the EDA gene in a family affected by oligodontia

Authors: Gisela Ruiz-Heiland, Sarah Jabir, Wolfgang Wende, Sonja Blecher, Niko Bock, Sabine Ruf

Published in: Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie | Issue 1/2016

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Abstract

Background

Mutations in the EDAEDAREDARADD 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.

Aim

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.

Methods

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.

Results and conclusion

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.
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Metadata
Title
Novel missense mutation in the EDA gene in a family affected by oligodontia
Authors
Gisela Ruiz-Heiland
Sarah Jabir
Wolfgang Wende
Sonja Blecher
Niko Bock
Sabine Ruf
Publication date
01-01-2016
Publisher
Springer Berlin Heidelberg
Published in
Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie / Issue 1/2016
Print ISSN: 1434-5293
Electronic ISSN: 1615-6714
DOI
https://doi.org/10.1007/s00056-015-0005-1

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