Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
Identifieur interne : 003760 ( PubMed/Curation ); précédent : 003759; suivant : 003761Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
Auteurs : Mylène Béri-Deixheimer [France] ; Marie-José Gregoire ; Annick Toutain ; Karène Brochet ; Sylvain Briault ; Jean-Luc Schaff ; Bruno Leheup ; Philippe JonveauxSource :
- European journal of human genetics : EJHG [ 1018-4813 ] ; 2007.
Descripteurs français
- KwdFr :
- Académies et instituts (organisation et administration), Analyse cytogénétique, Cartographie chromosomique, Chromosomes humains de la paire 20 (génétique), Déficience intellectuelle (anatomopathologie), Déficience intellectuelle (génétique), Délétion de segment de chromosome, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Malformations multiples, Phénotype, Pronostic, Prédisposition génétique à une maladie, Technique FISH, Télomère.
- MESH :
- anatomopathologie : Déficience intellectuelle.
- génétique : Chromosomes humains de la paire 20, Déficience intellectuelle.
- organisation et administration : Académies et instituts.
- Analyse cytogénétique, Cartographie chromosomique, Délétion de segment de chromosome, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Malformations multiples, Phénotype, Pronostic, Prédisposition génétique à une maladie, Technique FISH, Télomère.
English descriptors
- KwdEn :
- Abnormalities, Multiple, Academies and Institutes (organization & administration), Child, Preschool, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 20 (genetics), Cytogenetic Analysis, Female, Genetic Predisposition to Disease, Genotype, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability (genetics), Intellectual Disability (pathology), Phenotype, Prognosis, Telomere.
- MESH :
- genetics : Chromosomes, Human, Pair 20, Intellectual Disability.
- organization & administration : Academies and Institutes.
- pathology : Intellectual Disability.
- Abnormalities, Multiple, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Cytogenetic Analysis, Female, Genetic Predisposition to Disease, Genotype, Humans, In Situ Hybridization, Fluorescence, Phenotype, Prognosis, Telomere.
Abstract
The identification of subtelomeric rearrangements as a cause of mental retardation has made a considerable contribution to diagnosing patients with mental retardation. It is remarkable that for certain subtelomeric regions, deletions have hardly ever been reported so far. All the laboratories from the 'Association des Cytogénéticiens de Langue Française' were surveyed for cases where an abnormality of the subtelomere FISH analysis had been ascertained. Among 1511 cases referred owing to unexplained mental retardation, 115 (7.6%) patients showed a clinically significant subtelomeric abnormality. We report the clinical features and the molecular cytogenetic delineation of isolated de novo deletions on 20q13.33 in two cases. Detailed mapping was performed by micro-array CGH in one patient and confirmed by FISH in the two patients. We compare our data with the only three patients reported in the literature. Both patients shared a deleted region of approximately 1.33 Mb including 40 genes, with a 324 kb difference between the two patients. Haploinsufficiency for CHRNA4 and ARFGAP1 may have contributed towards a severe phenotype. In addition, the data in all patients suggest that haploinsufficiency for SOX18 may not cause the hypotrichosis-lymphedema-telangiectasia syndrome, or causes milder disease. Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA4 and ARFGAP1 genes respectively.
DOI: 10.1038/sj.ejhg.5201784
PubMed: 17290276
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de Génétique, EA 4002, CHU, Nancy-University</wicri:regionArea></affiliation></author><author><name sortKey="Gregoire, Marie Jose" sort="Gregoire, Marie Jose" uniqKey="Gregoire M" first="Marie-José" last="Gregoire">Marie-José Gregoire</name></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name></author><author><name sortKey="Brochet, Karene" sort="Brochet, Karene" uniqKey="Brochet K" first="Karène" last="Brochet">Karène Brochet</name></author><author><name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name></author><author><name sortKey="Schaff, Jean Luc" sort="Schaff, Jean Luc" uniqKey="Schaff J" first="Jean-Luc" last="Schaff">Jean-Luc Schaff</name></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name></author><author><name sortKey="Jonveaux, Philippe" sort="Jonveaux, Philippe" uniqKey="Jonveaux P" first="Philippe" last="Jonveaux">Philippe Jonveaux</name></author></analytic><series><title level="j">European journal of human genetics : EJHG</title><idno type="ISSN">1018-4813</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple</term><term>Academies and Institutes (organization & administration)</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 20 (genetics)</term><term>Cytogenetic Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Intellectual Disability (genetics)</term><term>Intellectual Disability (pathology)</term><term>Phenotype</term><term>Prognosis</term><term>Telomere</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Académies et instituts (organisation et administration)</term><term>Analyse cytogénétique</term><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 20 (génétique)</term><term>Déficience intellectuelle (anatomopathologie)</term><term>Déficience intellectuelle (génétique)</term><term>Délétion de segment de chromosome</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Malformations multiples</term><term>Phénotype</term><term>Pronostic</term><term>Prédisposition génétique à une maladie</term><term>Technique FISH</term><term>Télomère</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 20</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 20</term><term>Déficience intellectuelle</term></keywords><keywords scheme="MESH" qualifier="organisation et administration" xml:lang="fr"><term>Académies et instituts</term></keywords><keywords scheme="MESH" qualifier="organization & administration" xml:lang="en"><term>Academies and Institutes</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Intellectual Disability</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Abnormalities, Multiple</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Cytogenetic Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Phenotype</term><term>Prognosis</term><term>Telomere</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse cytogénétique</term><term>Cartographie chromosomique</term><term>Délétion de segment de chromosome</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Malformations multiples</term><term>Phénotype</term><term>Pronostic</term><term>Prédisposition génétique à une maladie</term><term>Technique FISH</term><term>Télomère</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The identification of subtelomeric rearrangements as a cause of mental retardation has made a considerable contribution to diagnosing patients with mental retardation. It is remarkable that for certain subtelomeric regions, deletions have hardly ever been reported so far. All the laboratories from the 'Association des Cytogénéticiens de Langue Française' were surveyed for cases where an abnormality of the subtelomere FISH analysis had been ascertained. Among 1511 cases referred owing to unexplained mental retardation, 115 (7.6%) patients showed a clinically significant subtelomeric abnormality. We report the clinical features and the molecular cytogenetic delineation of isolated de novo deletions on 20q13.33 in two cases. Detailed mapping was performed by micro-array CGH in one patient and confirmed by FISH in the two patients. We compare our data with the only three patients reported in the literature. Both patients shared a deleted region of approximately 1.33 Mb including 40 genes, with a 324 kb difference between the two patients. Haploinsufficiency for CHRNA4 and ARFGAP1 may have contributed towards a severe phenotype. In addition, the data in all patients suggest that haploinsufficiency for SOX18 may not cause the hypotrichosis-lymphedema-telangiectasia syndrome, or causes milder disease. Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA4 and ARFGAP1 genes respectively.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17290276</PMID><DateCreated><Year>2007</Year><Month>03</Month><Day>22</Day></DateCreated><DateCompleted><Year>2007</Year><Month>06</Month><Day>22</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1018-4813</ISSN><JournalIssue CitedMedium="Print"><Volume>15</Volume><Issue>4</Issue><PubDate><Year>2007</Year><Month>Apr</Month></PubDate></JournalIssue><Title>European journal of human genetics : EJHG</Title><ISOAbbreviation>Eur. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.</ArticleTitle><Pagination><MedlinePgn>446-52</MedlinePgn></Pagination><Abstract><AbstractText>The identification of subtelomeric rearrangements as a cause of mental retardation has made a considerable contribution to diagnosing patients with mental retardation. It is remarkable that for certain subtelomeric regions, deletions have hardly ever been reported so far. All the laboratories from the 'Association des Cytogénéticiens de Langue Française' were surveyed for cases where an abnormality of the subtelomere FISH analysis had been ascertained. Among 1511 cases referred owing to unexplained mental retardation, 115 (7.6%) patients showed a clinically significant subtelomeric abnormality. We report the clinical features and the molecular cytogenetic delineation of isolated de novo deletions on 20q13.33 in two cases. Detailed mapping was performed by micro-array CGH in one patient and confirmed by FISH in the two patients. We compare our data with the only three patients reported in the literature. Both patients shared a deleted region of approximately 1.33 Mb including 40 genes, with a 324 kb difference between the two patients. Haploinsufficiency for CHRNA4 and ARFGAP1 may have contributed towards a severe phenotype. In addition, the data in all patients suggest that haploinsufficiency for SOX18 may not cause the hypotrichosis-lymphedema-telangiectasia syndrome, or causes milder disease. Our study gives important information by defining the size of imbalance and better predicting the phenotype. Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA4 and ARFGAP1 genes respectively.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Béri-Deixheimer</LastName><ForeName>Mylène</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratoire de Génétique, EA 4002, CHU, Nancy-University, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gregoire</LastName><ForeName>Marie-José</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Toutain</LastName><ForeName>Annick</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brochet</LastName><ForeName>Karène</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Briault</LastName><ForeName>Sylvain</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Schaff</LastName><ForeName>Jean-Luc</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Leheup</LastName><ForeName>Bruno</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Jonveaux</LastName><ForeName>Philippe</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2007</Year><Month>02</Month><Day>07</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Eur J Hum Genet</MedlineTA><NlmUniqueID>9302235</NlmUniqueID><ISSNLinking>1018-4813</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000047" MajorTopicYN="N">Academies and Institutes</DescriptorName><QualifierName UI="Q000458" MajorTopicYN="N">organization & administration</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002872" MajorTopicYN="Y">Chromosome Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002890" MajorTopicYN="N">Chromosomes, Human, Pair 20</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020732" MajorTopicYN="N">Cytogenetic Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="Y">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017404" MajorTopicYN="N">In Situ Hybridization, Fluorescence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011379" MajorTopicYN="N">Prognosis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016615" MajorTopicYN="Y">Telomere</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>2</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>6</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>2</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17290276</ArticleId><ArticleId IdType="pii">5201784</ArticleId><ArticleId IdType="doi">10.1038/sj.ejhg.5201784</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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