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WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
National Oral Disability Centre, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
Jönköping University, School of Health and Welfare, HHJ. CHILD.
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2014 (English)In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 164, no 2, 353-359 p.Article in journal (Refereed) Published
Abstract [en]

A large proportion (>50%) of patients with isolated oligodontia were recently reported with WNT10A mutations. We have analyzed a population-based cohort of 102 individuals diagnosed with non-syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of WNT10A identified that 26 probands (27.7%) had at least one WNT10A variant. When we included the MSX1, PAX9, AXIN2, EDA, EDAR, and EDARADD genes, 38.3% of probands were positive for a mutation. Biallelic WNT10A mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic WNT10 mutations (6.82) and the group without mutations in WNT10A, MSX1, PAX9, AXIN2, EDA, EDAR, or EDARADD (7.77). Genotype–phenotype analysis of individuals with WNT10A mutations showed that premolars were the most common missing teeth. Furthermore, biallelic WNT10A mutations were associated with absence of maxillary and mandibular molars as well as mandibular central incisors. Maxillary central incisors were always present. Thus, our study indicates that WNT10A mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population-based cohort of isolated oligodontia had a considerably lower frequency of mutated WNT10A alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers.

Place, publisher, year, edition, pages
2014. Vol. 164, no 2, 353-359 p.
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:hj:diva-25341DOI: 10.1002/ajmg.a.36243ISI: 000331067100010PubMedID: 24449199Scopus ID: 2-s2.0-84892875876OAI: oai:DiVA.org:hj-25341DiVA: diva2:772789
Available from: 2014-12-17 Created: 2014-12-17 Last updated: 2016-12-05Bibliographically approved

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