7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Identifieur interne : 001815 ( PubMed/Corpus ); précédent : 001814; suivant : 0018167p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Auteurs : Keiko Shimojima ; Satoshi Narai ; Masami Togawa ; Tomotsune Doumoto ; Noriko Sangu ; Olivier M. Vanakker ; Anne De Paepe ; Matthew Edwards ; John Whitehall ; Sally Brescianini ; Florence Petit ; Joris Andrieux ; Toshiyuki YamamotoSource :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Abnormalities, Multiple (physiopathology), Actins (biosynthesis), Actins (genetics), Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 7 (genetics), Developmental Disabilities (genetics), Developmental Disabilities (physiopathology), Dwarfism (genetics), Dwarfism (physiopathology), Female, Gene Expression (genetics), Haploinsufficiency (genetics), Humans, Infant, Infant, Newborn, Lymphocytes (metabolism), Lymphocytes (pathology), Male, Microcephaly (genetics), Microcephaly (physiopathology), Phenotype.
- MESH :
- chemical , biosynthesis : Actins.
- genetics : Abnormalities, Multiple, Actins, Chromosomes, Human, Pair 7, Developmental Disabilities, Dwarfism, Gene Expression, Haploinsufficiency, Microcephaly.
- metabolism : Lymphocytes.
- pathology : Lymphocytes.
- physiopathology : Abnormalities, Multiple, Developmental Disabilities, Dwarfism, Microcephaly.
- Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Female, Humans, Infant, Infant, Newborn, Male, Phenotype.
Abstract
There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.
DOI: 10.1016/j.ejmg.2016.09.008
PubMed: 27633570
Links to Exploration step
pubmed:27633570Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.</title><author><name sortKey="Shimojima, Keiko" sort="Shimojima, Keiko" uniqKey="Shimojima K" first="Keiko" last="Shimojima">Keiko Shimojima</name><affiliation><nlm:affiliation>Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Narai, Satoshi" sort="Narai, Satoshi" uniqKey="Narai S" first="Satoshi" last="Narai">Satoshi Narai</name><affiliation><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Togawa, Masami" sort="Togawa, Masami" uniqKey="Togawa M" first="Masami" last="Togawa">Masami Togawa</name><affiliation><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Doumoto, Tomotsune" sort="Doumoto, Tomotsune" uniqKey="Doumoto T" first="Tomotsune" last="Doumoto">Tomotsune Doumoto</name><affiliation><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Sangu, Noriko" sort="Sangu, Noriko" uniqKey="Sangu N" first="Noriko" last="Sangu">Noriko Sangu</name><affiliation><nlm:affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name><affiliation><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name><affiliation><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name><affiliation><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name><affiliation><nlm:affiliation>Centre for Genetic Education, University of Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Yamamoto, Toshiyuki" sort="Yamamoto, Toshiyuki" uniqKey="Yamamoto T" first="Toshiyuki" last="Yamamoto">Toshiyuki Yamamoto</name><affiliation><nlm:affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27633570</idno><idno type="pmid">27633570</idno><idno type="doi">10.1016/j.ejmg.2016.09.008</idno><idno type="wicri:Area/PubMed/Corpus">001815</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001815</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.</title><author><name sortKey="Shimojima, Keiko" sort="Shimojima, Keiko" uniqKey="Shimojima K" first="Keiko" last="Shimojima">Keiko Shimojima</name><affiliation><nlm:affiliation>Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Narai, Satoshi" sort="Narai, Satoshi" uniqKey="Narai S" first="Satoshi" last="Narai">Satoshi Narai</name><affiliation><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Togawa, Masami" sort="Togawa, Masami" uniqKey="Togawa M" first="Masami" last="Togawa">Masami Togawa</name><affiliation><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Doumoto, Tomotsune" sort="Doumoto, Tomotsune" uniqKey="Doumoto T" first="Tomotsune" last="Doumoto">Tomotsune Doumoto</name><affiliation><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Sangu, Noriko" sort="Sangu, Noriko" uniqKey="Sangu N" first="Noriko" last="Sangu">Noriko Sangu</name><affiliation><nlm:affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name><affiliation><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name><affiliation><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name><affiliation><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name><affiliation><nlm:affiliation>Centre for Genetic Education, University of Sydney, New South Wales, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Yamamoto, Toshiyuki" sort="Yamamoto, Toshiyuki" uniqKey="Yamamoto T" first="Toshiyuki" last="Yamamoto">Toshiyuki Yamamoto</name><affiliation><nlm:affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.</nlm:affiliation></affiliation></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Abnormalities, Multiple (physiopathology)</term><term>Actins (biosynthesis)</term><term>Actins (genetics)</term><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Chromosomes, Human, Pair 7 (genetics)</term><term>Developmental Disabilities (genetics)</term><term>Developmental Disabilities (physiopathology)</term><term>Dwarfism (genetics)</term><term>Dwarfism (physiopathology)</term><term>Female</term><term>Gene Expression (genetics)</term><term>Haploinsufficiency (genetics)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Lymphocytes (metabolism)</term><term>Lymphocytes (pathology)</term><term>Male</term><term>Microcephaly (genetics)</term><term>Microcephaly (physiopathology)</term><term>Phenotype</term></keywords><keywords scheme="MESH" type="chemical" qualifier="biosynthesis" xml:lang="en"><term>Actins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Actins</term><term>Chromosomes, Human, Pair 7</term><term>Developmental Disabilities</term><term>Dwarfism</term><term>Gene Expression</term><term>Haploinsufficiency</term><term>Microcephaly</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lymphocytes</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphocytes</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Abnormalities, Multiple</term><term>Developmental Disabilities</term><term>Dwarfism</term><term>Microcephaly</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27633570</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>30</Day></DateCreated><DateCompleted><Year>2017</Year><Month>02</Month><Day>07</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>07</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1878-0849</ISSN><JournalIssue CitedMedium="Internet"><Volume>59</Volume><Issue>10</Issue><PubDate><Year>2016</Year><Month>Oct</Month></PubDate></JournalIssue><Title>European journal of medical genetics</Title><ISOAbbreviation>Eur J Med Genet</ISOAbbreviation></Journal><ArticleTitle>7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.</ArticleTitle><Pagination><MedlinePgn>502-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ejmg.2016.09.008</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1769-7212(16)30314-7</ELocationID><Abstract><AbstractText>There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.</AbstractText><CopyrightInformation>Copyright © 2016 Elsevier Masson SAS. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Shimojima</LastName><ForeName>Keiko</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Narai</LastName><ForeName>Satoshi</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Togawa</LastName><ForeName>Masami</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Doumoto</LastName><ForeName>Tomotsune</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sangu</LastName><ForeName>Noriko</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vanakker</LastName><ForeName>Olivier M</ForeName><Initials>OM</Initials><AffiliationInfo><Affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Paepe</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Edwards</LastName><ForeName>Matthew</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Whitehall</LastName><ForeName>John</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brescianini</LastName><ForeName>Sally</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Centre for Genetic Education, University of Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petit</LastName><ForeName>Florence</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andrieux</LastName><ForeName>Joris</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yamamoto</LastName><ForeName>Toshiyuki</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>09</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Eur J Med Genet</MedlineTA><NlmUniqueID>101247089</NlmUniqueID><ISSNLinking>1769-7212</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000199">Actins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000199" MajorTopicYN="N">Actins</DescriptorName><QualifierName UI="Q000096" MajorTopicYN="N">biosynthesis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002872" MajorTopicYN="N">Chromosome Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002897" MajorTopicYN="N">Chromosomes, Human, Pair 7</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002658" MajorTopicYN="N">Developmental Disabilities</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004392" MajorTopicYN="N">Dwarfism</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015870" MajorTopicYN="N">Gene Expression</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D057895" MajorTopicYN="N">Haploinsufficiency</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008214" MajorTopicYN="N">Lymphocytes</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">7p22.1 microdeletion</Keyword><Keyword MajorTopicYN="N">Baraitser-Winter syndrome 1 (BRWS1)</Keyword><Keyword MajorTopicYN="N">Developmental delay</Keyword><Keyword MajorTopicYN="N">Microcephaly</Keyword><Keyword MajorTopicYN="N">Short stature</Keyword><Keyword MajorTopicYN="N">The beta-actin gene (ACTB)</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>11</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>04</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>09</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>2</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27633570</ArticleId><ArticleId IdType="pii">S1769-7212(16)30314-7</ArticleId><ArticleId IdType="doi">10.1016/j.ejmg.2016.09.008</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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