PubMed:20236127
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/20236127","sourcedb":"PubMed","sourceid":"20236127","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/20236127","text":"X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.\nHypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular defects. A total of 27 patients from 24 unrelated families exhibiting clinical signs of HED (22 XLHED males, 5 autosomal recessive forms) were retrospectively included. In the sample, 25 different mutations on EDA and EDAR genes were detected; 10 were not previously described. EDA and EDAR mutations corresponded respectively to 80.0% and 20.0% of the mutations. The dental phenotype analysis revealed a mean number of primary and permanent missing teeth ranging respectively from 14.5 (4-20) to 22.5 (10-28); the majority of the patients exhibited dysmorphic teeth. Overall, no differential expression in the degree of oligodontia according to either the mutated gene, the mutated functional sub-domains, or the mutation type, could be observed. Nevertheless, the furin group exhibited severe phenotypes unobserved in the TNF group. Significant differences in the number of some primary missing teeth (incisor and canine) related to EDA-EDAR genes defects were detected for the first time between XLHED and autosomal recessive HED, suggesting differential local effects of EDA-EDAR genes during odontogenesis. The present genotypic-phenotypic findings may add to the knowledge of the consequences of the molecular dysfunction of EDA-NF-kB in odontogenesis, and could be helpful in genetic counseling to distinguish autosomal forms from other HED syndromes.","tracks":[{"project":"Allie","denotations":[{"id":"SS1_20236127_1_0","span":{"begin":106,"end":139},"obj":"expanded"},{"id":"SS2_20236127_1_0","span":{"begin":141,"end":144},"obj":"abbr"}],"relations":[{"id":"AE1_20236127_1_0","pred":"abbreviatedTo","subj":"SS1_20236127_1_0","obj":"SS2_20236127_1_0"}],"attributes":[{"subj":"SS1_20236127_1_0","pred":"source","obj":"Allie"},{"subj":"SS2_20236127_1_0","pred":"source","obj":"Allie"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":106,"end":139},"obj":"HP_0007607"},{"id":"T2","span":{"begin":119,"end":139},"obj":"HP_0000968"},{"id":"T3","span":{"begin":578,"end":597},"obj":"HP_0000007"},{"id":"T4","span":{"begin":1017,"end":1033},"obj":"HP_0000164"},{"id":"T5","span":{"begin":1088,"end":1099},"obj":"HP_0000677"},{"id":"T6","span":{"begin":1356,"end":1369},"obj":"HP_0006349"},{"id":"T7","span":{"begin":1476,"end":1495},"obj":"HP_0000007"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"},{"subj":"T6","pred":"source","obj":"PubmedHPO"},{"subj":"T7","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":267,"end":270},"obj":"gene:1896"},{"id":"T1","span":{"begin":106,"end":139},"obj":"disease:C0162359"},{"id":"T2","span":{"begin":267,"end":270},"obj":"gene:1896"},{"id":"T3","span":{"begin":141,"end":144},"obj":"disease:C0162359"},{"id":"T4","span":{"begin":267,"end":270},"obj":"gene:1896"},{"id":"T5","span":{"begin":166,"end":186},"obj":"disease:C0000768"},{"id":"T6","span":{"begin":271,"end":275},"obj":"gene:10913"},{"id":"T7","span":{"begin":106,"end":139},"obj":"disease:C0162359"},{"id":"T8","span":{"begin":271,"end":275},"obj":"gene:10913"},{"id":"T9","span":{"begin":166,"end":186},"obj":"disease:C0000768"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"},{"subj":"T8","pred":"source","obj":"DisGeNET"},{"subj":"T9","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"20236127-1#161#164#gene1896","span":{"begin":267,"end":270},"obj":"gene1896"},{"id":"20236127-1#165#169#gene10913","span":{"begin":271,"end":275},"obj":"gene10913"},{"id":"20236127-1#0#33#diseaseC0162359","span":{"begin":106,"end":139},"obj":"diseaseC0162359"},{"id":"20236127-1#60#80#diseaseC0000768","span":{"begin":166,"end":186},"obj":"diseaseC0000768"},{"id":"20236127-1#0#33#diseaseC0162359","span":{"begin":106,"end":139},"obj":"diseaseC0162359"},{"id":"20236127-1#60#80#diseaseC0000768","span":{"begin":166,"end":186},"obj":"diseaseC0000768"},{"id":"20236127-10#119#122#gene1896","span":{"begin":1698,"end":1701},"obj":"gene1896"},{"id":"20236127-10#119#122#gene1896","span":{"begin":1698,"end":1701},"obj":"gene1896"},{"id":"20236127-10#232#235#diseaseC3539920","span":{"begin":1811,"end":1814},"obj":"diseaseC3539920"},{"id":"20236127-10#232#235#diseaseC3541517","span":{"begin":1811,"end":1814},"obj":"diseaseC3541517"},{"id":"20236127-10#232#235#diseaseC3887494","span":{"begin":1811,"end":1814},"obj":"diseaseC3887494"},{"id":"20236127-10#232#235#diseaseC3888065","span":{"begin":1811,"end":1814},"obj":"diseaseC3888065"},{"id":"20236127-10#104#115#diseaseC3887505","span":{"begin":1683,"end":1694},"obj":"diseaseC3887505"},{"id":"20236127-9#100#103#gene1896","span":{"begin":1402,"end":1405},"obj":"gene1896"},{"id":"20236127-9#104#108#gene10913","span":{"begin":1406,"end":1410},"obj":"gene10913"},{"id":"20236127-9#164#169#gene1896","span":{"begin":1466,"end":1471},"obj":"gene1896"},{"id":"20236127-9#240#243#gene1896","span":{"begin":1542,"end":1545},"obj":"gene1896"},{"id":"20236127-9#244#248#gene10913","span":{"begin":1546,"end":1550},"obj":"gene10913"},{"id":"20236127-9#54#67#diseaseC0080233","span":{"begin":1356,"end":1369},"obj":"diseaseC0080233"},{"id":"20236127-9#54#67#diseaseC0399352","span":{"begin":1356,"end":1369},"obj":"diseaseC0399352"},{"id":"20236127-9#54#67#diseaseC0080233","span":{"begin":1356,"end":1369},"obj":"diseaseC0080233"},{"id":"20236127-9#54#67#diseaseC0399352","span":{"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