EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation
Identifieur interne : 001D84 ( Main/Exploration ); précédent : 001D83; suivant : 001D85EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation
Auteurs : Catarina Falk Kieri [Suède] ; Birgitta Bergendal [Suède] ; Lisbet K. Lind [Suède] ; Marcus Schmitt-Egenolf [Suède] ; Christina Stecksén-Blicks [Suède]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2014.
Abstract
Mutations in the
Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the
The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4–17) in the mutation group and 0.1 ± 0.3, (range 0–1) in the non-mutation group (p < 0.01). All individuals with the mutation were missing the maxillary lateral incisors and one or more of the mandibular incisors; and 81.3% were missing all four. Stimulated saliva secretion was 0.9 ± 0.5 ml/min in the mutation group vs 1.7 ± 0.6 ml/min in the non-mutation group (p < 0.01). Reduced ability to sweat was reported by 82% in the mutation group and by 20% in the non-mutation group (p < 0.01). The mean NOT-S score was 3.0 ± 1.9 (range 0–6) in the mutation group and 1.5 ± 1.1 (range 0–5) in the non-mutation group (p < 0.01). Lisping was present in 56% of individuals in the mutation group.
Individuals with a c.1072C > T mutation in the
Url:
DOI: 10.1186/1471-2350-15-57
PubMed: 24884697
PubMed Central: 4036832
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>EDAR</italic>-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation</title><author><name sortKey="Falk Kieri, Catarina" sort="Falk Kieri, Catarina" uniqKey="Falk Kieri C" first="Catarina" last="Falk Kieri">Catarina Falk Kieri</name><affiliation wicri:level="1"><nlm:aff id="I1">Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Bergendal, Birgitta" sort="Bergendal, Birgitta" uniqKey="Bergendal B" first="Birgitta" last="Bergendal">Birgitta Bergendal</name><affiliation wicri:level="1"><nlm:aff id="I2">National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping</wicri:regionArea><wicri:noRegion>Jönköping</wicri:noRegion></affiliation></author><author><name sortKey="Lind, Lisbet K" sort="Lind, Lisbet K" uniqKey="Lind L" first="Lisbet K" last="Lind">Lisbet K. Lind</name><affiliation wicri:level="1"><nlm:aff id="I3">Medical and Clinical Genetics, Department of Medical Biosciences, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Medical and Clinical Genetics, Department of Medical Biosciences, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Schmitt Egenolf, Marcus" sort="Schmitt Egenolf, Marcus" uniqKey="Schmitt Egenolf M" first="Marcus" last="Schmitt-Egenolf">Marcus Schmitt-Egenolf</name><affiliation wicri:level="1"><nlm:aff id="I4">Dermatology, Medicine, Department of Public Health and Clinical Medicine, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Dermatology, Medicine, Department of Public Health and Clinical Medicine, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Stecksen Blicks, Christina" sort="Stecksen Blicks, Christina" uniqKey="Stecksen Blicks C" first="Christina" last="Stecksén-Blicks">Christina Stecksén-Blicks</name><affiliation wicri:level="1"><nlm:aff id="I1">Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24884697</idno><idno type="pmc">4036832</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036832</idno><idno type="RBID">PMC:4036832</idno><idno type="doi">10.1186/1471-2350-15-57</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002167</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002167</idno><idno type="wicri:Area/Pmc/Curation">002167</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002167</idno><idno type="wicri:Area/Pmc/Checkpoint">001694</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001694</idno><idno type="wicri:Area/Ncbi/Merge">005123</idno><idno type="wicri:Area/Ncbi/Curation">005123</idno><idno type="wicri:Area/Ncbi/Checkpoint">005123</idno><idno type="wicri:Area/Main/Merge">001D91</idno><idno type="wicri:Area/Main/Curation">001D84</idno><idno type="wicri:Area/Main/Exploration">001D84</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>EDAR</italic>-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation</title><author><name sortKey="Falk Kieri, Catarina" sort="Falk Kieri, Catarina" uniqKey="Falk Kieri C" first="Catarina" last="Falk Kieri">Catarina Falk Kieri</name><affiliation wicri:level="1"><nlm:aff id="I1">Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Bergendal, Birgitta" sort="Bergendal, Birgitta" uniqKey="Bergendal B" first="Birgitta" last="Bergendal">Birgitta Bergendal</name><affiliation wicri:level="1"><nlm:aff id="I2">National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping</wicri:regionArea><wicri:noRegion>Jönköping</wicri:noRegion></affiliation></author><author><name sortKey="Lind, Lisbet K" sort="Lind, Lisbet K" uniqKey="Lind L" first="Lisbet K" last="Lind">Lisbet K. Lind</name><affiliation wicri:level="1"><nlm:aff id="I3">Medical and Clinical Genetics, Department of Medical Biosciences, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Medical and Clinical Genetics, Department of Medical Biosciences, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Schmitt Egenolf, Marcus" sort="Schmitt Egenolf, Marcus" uniqKey="Schmitt Egenolf M" first="Marcus" last="Schmitt-Egenolf">Marcus Schmitt-Egenolf</name><affiliation wicri:level="1"><nlm:aff id="I4">Dermatology, Medicine, Department of Public Health and Clinical Medicine, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Dermatology, Medicine, Department of Public Health and Clinical Medicine, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Stecksen Blicks, Christina" sort="Stecksen Blicks, Christina" uniqKey="Stecksen Blicks C" first="Christina" last="Stecksén-Blicks">Christina Stecksén-Blicks</name><affiliation wicri:level="1"><nlm:aff id="I1">Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Pediatric Dentistry, Department of Odontology, Faculty of Medicine, Umeå University, Umeå</wicri:regionArea><wicri:noRegion>Umeå</wicri:noRegion></affiliation></author></analytic><series><title level="j">BMC Medical Genetics</title><idno type="eISSN">1471-2350</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Mutations in the <italic>EDAR</italic>-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the <italic>EDAR</italic> gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function.</p></sec><sec><title>Methods</title><p>Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the <italic>EDAR</italic> gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the <italic>EDAR</italic> gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S.</p></sec><sec><title>Results</title><p>The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4–17) in the mutation group and 0.1 ± 0.3, (range 0–1) in the non-mutation group (p < 0.01). All individuals with the mutation were missing the maxillary lateral incisors and one or more of the mandibular incisors; and 81.3% were missing all four. Stimulated saliva secretion was 0.9 ± 0.5 ml/min in the mutation group vs 1.7 ± 0.6 ml/min in the non-mutation group (p < 0.01). Reduced ability to sweat was reported by 82% in the mutation group and by 20% in the non-mutation group (p < 0.01). The mean NOT-S score was 3.0 ± 1.9 (range 0–6) in the mutation group and 1.5 ± 1.1 (range 0–5) in the non-mutation group (p < 0.01). Lisping was present in 56% of individuals in the mutation group.</p></sec><sec><title>Conclusions</title><p>Individuals with a c.1072C > T mutation in the <italic>EDAR-</italic>gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Mikkola, Ml" uniqKey="Mikkola M">ML Mikkola</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Itin, Ph" uniqKey="Itin P">PH Itin</name></author><author><name sortKey="Fistarol, Sk" uniqKey="Fistarol S">SK Fistarol</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Clarke, A" uniqKey="Clarke A">A Clarke</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cluzeau, C" uniqKey="Cluzeau C">C Cluzeau</name></author><author><name sortKey="Hadj Rabia, S" uniqKey="Hadj Rabia S">S Hadj-Rabia</name></author><author><name sortKey="Jambou, M" uniqKey="Jambou M">M Jambou</name></author><author><name sortKey="Mansour, S" uniqKey="Mansour S">S Mansour</name></author><author><name sortKey="Guigue, P" 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sortKey="Koch, G" uniqKey="Koch G">G Koch</name></author><author><name sortKey="Kurol, J" uniqKey="Kurol J">J Kurol</name></author><author><name sortKey="Kvint, S" uniqKey="Kvint S">S Kvint</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Suède</li></country></list><tree><country name="Suède"><noRegion><name sortKey="Falk Kieri, Catarina" sort="Falk Kieri, Catarina" uniqKey="Falk Kieri C" first="Catarina" last="Falk Kieri">Catarina Falk Kieri</name></noRegion><name sortKey="Bergendal, Birgitta" sort="Bergendal, Birgitta" uniqKey="Bergendal B" first="Birgitta" last="Bergendal">Birgitta Bergendal</name><name sortKey="Lind, Lisbet K" sort="Lind, Lisbet K" uniqKey="Lind L" first="Lisbet K" last="Lind">Lisbet K. Lind</name><name sortKey="Schmitt Egenolf, Marcus" sort="Schmitt Egenolf, Marcus" uniqKey="Schmitt Egenolf M" first="Marcus" last="Schmitt-Egenolf">Marcus Schmitt-Egenolf</name><name sortKey="Stecksen Blicks, Christina" sort="Stecksen Blicks, Christina" uniqKey="Stecksen Blicks C" first="Christina" last="Stecksén-Blicks">Christina Stecksén-Blicks</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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