Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene☆
Identifieur interne : 002561 ( Main/Exploration ); précédent : 002560; suivant : 002562Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene☆
Auteurs : Natália D. Linhares [Brésil] ; Marta Svartman [Brésil] ; Mauro Ivan Salgado [Brésil] ; Tatiane C. Rodrigues [Brésil] ; Silvia S. Da Costa [Brésil] ; Carla Rosenberg [Brésil] ; Eugênia R. Valadares [Brésil]Source :
- Meta Gene [ 2214-5400 ] ; 2013.
Abstract
Studies in mice demonstrated that the
Url:
DOI: 10.1016/j.mgene.2013.10.005
PubMed: 25606385
PubMed Central: 4287791
Affiliations:
- Brésil
- Minas Gerais, État de São Paulo
- Belo Horizonte, São Paulo
- Université de São Paulo, Université fédérale du Minas Gerais
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Linhares</name><affiliation wicri:level="4"><nlm:aff id="af0005">Setor de Citogenética/Laboratório Central do Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Setor de Citogenética/Laboratório Central do Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Svartman, Marta" sort="Svartman, Marta" uniqKey="Svartman M" first="Marta" last="Svartman">Marta Svartman</name><affiliation wicri:level="4"><nlm:aff id="af0010">Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Salgado, Mauro Ivan" sort="Salgado, Mauro Ivan" uniqKey="Salgado M" first="Mauro Ivan" last="Salgado">Mauro Ivan Salgado</name><affiliation wicri:level="4"><nlm:aff id="af0015">Departamento de Cirurgia, Faculdade de Medicina, Universidade Federal de Minas Gerais, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Cirurgia, Faculdade de Medicina, Universidade Federal de Minas Gerais</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Rodrigues, Tatiane C" sort="Rodrigues, Tatiane C" uniqKey="Rodrigues T" first="Tatiane C." last="Rodrigues">Tatiane C. 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Valadares</name><affiliation wicri:level="4"><nlm:aff id="af0025">Departamento de Propedêutica Complementar, Faculdade de Medicina, Universidade Federal de Minas Gerais, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Propedêutica Complementar, Faculdade de Medicina, Universidade Federal de Minas Gerais</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25606385</idno><idno type="pmc">4287791</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287791</idno><idno type="RBID">PMC:4287791</idno><idno type="doi">10.1016/j.mgene.2013.10.005</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001961</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001961</idno><idno type="wicri:Area/Pmc/Curation">001961</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001961</idno><idno type="wicri:Area/Pmc/Checkpoint">001A67</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001A67</idno><idno type="wicri:Area/Ncbi/Merge">005795</idno><idno type="wicri:Area/Ncbi/Curation">005795</idno><idno type="wicri:Area/Ncbi/Checkpoint">005795</idno><idno type="wicri:Area/Main/Merge">002572</idno><idno type="wicri:Area/Main/Curation">002561</idno><idno type="wicri:Area/Main/Exploration">002561</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the <italic>SHH</italic> gene<sup><xref ref-type="fn" rid="d32e65">☆</xref></sup></title><author><name sortKey="Linhares, Natalia D" sort="Linhares, Natalia D" uniqKey="Linhares N" first="Natália D." last="Linhares">Natália D. Linhares</name><affiliation wicri:level="4"><nlm:aff id="af0005">Setor de Citogenética/Laboratório Central do Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Setor de Citogenética/Laboratório Central do Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region><settlement type="city">Belo Horizonte</settlement></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Svartman, Marta" sort="Svartman, Marta" uniqKey="Svartman M" first="Marta" last="Svartman">Marta Svartman</name><affiliation wicri:level="4"><nlm:aff id="af0010">Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Salgado, Mauro Ivan" sort="Salgado, Mauro Ivan" uniqKey="Salgado M" first="Mauro Ivan" last="Salgado">Mauro Ivan Salgado</name><affiliation wicri:level="4"><nlm:aff id="af0015">Departamento de Cirurgia, Faculdade de Medicina, Universidade Federal de Minas Gerais, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Cirurgia, Faculdade de Medicina, Universidade Federal de Minas Gerais</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Rodrigues, Tatiane C" sort="Rodrigues, Tatiane C" uniqKey="Rodrigues T" first="Tatiane C." last="Rodrigues">Tatiane C. Rodrigues</name><affiliation wicri:level="4"><nlm:aff id="af0020">Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Da Costa, Silvia S" sort="Da Costa, Silvia S" uniqKey="Da Costa S" first="Silvia S." last="Da Costa">Silvia S. Da Costa</name><affiliation wicri:level="4"><nlm:aff id="af0020">Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Rosenberg, Carla" sort="Rosenberg, Carla" uniqKey="Rosenberg C" first="Carla" last="Rosenberg">Carla Rosenberg</name><affiliation wicri:level="4"><nlm:aff id="af0020">Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Valadares, Eugenia R" sort="Valadares, Eugenia R" uniqKey="Valadares E" first="Eugênia R." last="Valadares">Eugênia R. Valadares</name><affiliation wicri:level="4"><nlm:aff id="af0025">Departamento de Propedêutica Complementar, Faculdade de Medicina, Universidade Federal de Minas Gerais, Brazil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Propedêutica Complementar, Faculdade de Medicina, Universidade Federal de Minas Gerais</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author></analytic><series><title level="j">Meta Gene</title><idno type="eISSN">2214-5400</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Studies in mice demonstrated that the <italic>Shh</italic> gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the <italic>SHH</italic> gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a <italic>de novo</italic> 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the <italic>MNX1</italic>, <italic>HTR5A</italic> and <italic>EN2</italic> genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the <italic>SHH</italic> gene in dental development.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Beleza Meireles, A" uniqKey="Beleza Meireles A">A. Beleza-Meireles</name></author><author><name sortKey="Matoso, E" uniqKey="Matoso E">E. Matoso</name></author><author><name sortKey="Ramos, L" uniqKey="Ramos L">L. Ramos</name></author><author><name sortKey="Melo, J B" uniqKey="Melo J">J.B. Melo</name></author><author><name sortKey="Carreira, I M" uniqKey="Carreira I">I.M. Carreira</name></author><author><name sortKey="Silva, E D" uniqKey="Silva E">E.D. 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Strachan</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Brésil</li></country><region><li>Minas Gerais</li><li>État de São Paulo</li></region><settlement><li>Belo Horizonte</li><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li><li>Université fédérale du Minas Gerais</li></orgName></list><tree><country name="Brésil"><region name="Minas Gerais"><name sortKey="Linhares, Natalia D" sort="Linhares, Natalia D" uniqKey="Linhares N" first="Natália D." last="Linhares">Natália D. Linhares</name></region><name sortKey="Da Costa, Silvia S" sort="Da Costa, Silvia S" uniqKey="Da Costa S" first="Silvia S." last="Da Costa">Silvia S. Da Costa</name><name sortKey="Rodrigues, Tatiane C" sort="Rodrigues, Tatiane C" uniqKey="Rodrigues T" first="Tatiane C." last="Rodrigues">Tatiane C. Rodrigues</name><name sortKey="Rosenberg, Carla" sort="Rosenberg, Carla" uniqKey="Rosenberg C" first="Carla" last="Rosenberg">Carla Rosenberg</name><name sortKey="Salgado, Mauro Ivan" sort="Salgado, Mauro Ivan" uniqKey="Salgado M" first="Mauro Ivan" last="Salgado">Mauro Ivan Salgado</name><name sortKey="Svartman, Marta" sort="Svartman, Marta" uniqKey="Svartman M" first="Marta" last="Svartman">Marta Svartman</name><name sortKey="Valadares, Eugenia R" sort="Valadares, Eugenia R" uniqKey="Valadares E" first="Eugênia R." last="Valadares">Eugênia R. Valadares</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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