From ectodermal dysplasia to selective tooth agenesis
نویسندگان
چکیده
منابع مشابه
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.
Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35-50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40% had at least one mutation in the WNT10A gene. The WNT10A Phe...
متن کاملDental implants in patients with ectodermal dysplasia and tooth agenesis: a critical review of the literature.
PURPOSE The aims of this article are to critique the available literature on dental implants in patients with ectodermal dysplasia (ED) syndrome and tooth agenesis, review the outcomes of implant therapy in these patients, and provide recommendations on the timing of implant placement for these patients. MATERIALS AND METHODS Searches were performed using Medline, Embase, All EBM Reviews, and...
متن کاملNovel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Whole exome sequencing was perf...
متن کاملTooth Agenesis
Tooth agenesis denotes a condition where teeth are missing due to a developmental failure. According to severity, this malformation can be subdivided into hypodontia, oligodontia and anodontia. With a frequency of 20–30%, tooth agenesis is the most prevalent dental dysplasia, but not all teeth are equally affected. Familial occurrence and concordance in twins indicate potential genetic causes. ...
متن کاملHaploinsufficiency of MSX1: a mechanism for selective tooth agenesis.
Previously, we found that the cause of autosomal dominant selective tooth agenesis in one family is a missense mutation resulting in an arginine-to-proline substitution in the homeodomain of MSX1. To determine whether the tooth agenesis phenotype may result from haploinsufficiency or a dominant-negative mechanism, we have performed biochemical and functional analyses of the mutant protein Msx1(...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2009
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.32801