{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T23:12:51Z","timestamp":1784416371410,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T00:00:00Z","timestamp":1385337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>A large proportion (&gt;50%) of patients with isolated oligodontia were recently reported with <jats:italic>WNT10A<\/jats:italic> mutations. We have analyzed a population\u2010based cohort of 102 individuals diagnosed with non\u2010syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of <jats:italic>WNT10A<\/jats:italic> identified that 26 probands (27.7%) had at least one <jats:italic>WNT10A<\/jats:italic> variant. When we included the <jats:italic>MSX1<\/jats:italic>, <jats:italic>PAX9<\/jats:italic>, <jats:italic>AXIN2<\/jats:italic>, <jats:italic>EDA<\/jats:italic>, <jats:italic>EDAR<\/jats:italic>, and <jats:italic>EDARADD<\/jats:italic> genes, 38.3% of probands were positive for a mutation. Biallelic <jats:italic>WNT10A<\/jats:italic> mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic <jats:italic>WNT10<\/jats:italic> mutations (6.82) and the group without mutations in <jats:italic>WNT10A<\/jats:italic>, <jats:italic>MSX1<\/jats:italic>, <jats:italic>PAX9<\/jats:italic>, <jats:italic>AXIN2<\/jats:italic>, <jats:italic>EDA<\/jats:italic>, <jats:italic>EDAR<\/jats:italic>, or <jats:italic>EDARADD<\/jats:italic> (7.77). Genotype\u2013phenotype analysis of individuals with <jats:italic>WNT10A<\/jats:italic> mutations showed that premolars were the most common missing teeth. Furthermore, biallelic <jats:italic>WNT10A<\/jats:italic> 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 <jats:italic>WNT10A<\/jats:italic> mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population\u2010based cohort of isolated oligodontia had a considerably lower frequency of mutated <jats:italic>WNT10A<\/jats:italic> alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36243","type":"journal-article","created":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T20:36:45Z","timestamp":1385411805000},"page":"353-359","source":"Crossref","is-referenced-by-count":72,"title":["<i>WNT<\/i><i>10A<\/i> mutations account for \u00bc of population\u2010based isolated oligodontia and show phenotypic correlations"],"prefix":"10.1002","volume":"164","author":[{"given":"Pakeeza Shaiq","family":"Arzoo","sequence":"first","affiliation":[{"name":"Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala University Uppsala 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