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- Bergendal, BirgittaJönköping University,HHJ. CHILD,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden,Inst Postgrad Dent Educ, Natl Oral Disabil Ctr Rare Disorders, POB 1030, SE-55111 Jonkoping, Sweden.;Jonkoping Univ, Sch Hlth & Welf, Jonkoping, Sweden. (författare)
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
- Artikel/kapitelEngelska2016
Förlag, utgivningsår, omfång ...
- 2016-11-24
- Springer Science and Business Media LLC,2016
- electronicrdacarrier
Nummerbeteckningar
- LIBRIS-ID:oai:DiVA.org:uu-312069
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-312069URI
- https://doi.org/10.1186/s12881-016-0349-4DOI
- https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-34164URI
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- Språk:engelska
- Sammanfattning på:engelska
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- Background: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis. Methods: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. Results: Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I. Conclusions: We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of biallelic WNT10A mutations of importance for diagnosis, counselling and follow-up.
Ämnesord och genrebeteckningar
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Odontologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Dentistry hsv//eng
- WNT10A mutations
- Ectodermal dysplasia
- Dental
- Primary dentition
- Permanent dentition
Biuppslag (personer, institutioner, konferenser, titlar ...)
- Norderyd, JohannaJönköping University,HHJ. CHILD,National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden,Inst Postgrad Dent Educ, Natl Oral Disabil Ctr Rare Disorders, POB 1030, SE-55111 Jonkoping, Sweden.;Jonkoping Univ, Sch Hlth & Welf, Jonkoping, Sweden.(Swepub:hj)gtoino (författare)
- Zhou, XiaoleiUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Uppsala University, Department of Immunology, Genetics and Pathology, Uppsala, Sweden (författare)
- Klar, JoakimUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Uppsala University, Department of Immunology, Genetics and Pathology, Uppsala, Sweden(Swepub:uu)jkl27173 (författare)
- Dahl, NiklasUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Uppsala University, Department of Immunology, Genetics and Pathology, Uppsala, Sweden(Swepub:uu)nikldahl (författare)
- Jönköping UniversityHHJ. CHILD (creator_code:org_t)
Sammanhörande titlar
- Ingår i:BMC Medical Genetics: Springer Science and Business Media LLC171471-2350
Internetlänk
- https://uu.diva-portal.org/smash/get/diva2:1062153/FULLTEXT01.pdffulltext:print
- https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-016-0349-4
- https://hj.diva-portal.org/smash/get/diva2:1052025/FULLTEXT01.pdffulltext:print
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-312069
- https://doi.org/10.1186/s12881-016-0349-4
- https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-34164
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