7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Identifieur interne : 002465 ( PubMed/Checkpoint ); précédent : 002464; suivant : 0024667p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Auteurs : Keiko Shimojima [Japon] ; Satoshi Narai [Japon] ; Masami Togawa [Japon] ; Tomotsune Doumoto [Japon] ; Noriko Sangu [Japon] ; Olivier M. Vanakker [Belgique] ; Anne De Paepe [Belgique] ; Matthew Edwards [Australie] ; John Whitehall [Australie] ; Sally Brescianini [Australie] ; Florence Petit [France] ; Joris Andrieux [France] ; Toshiyuki Yamamoto [Japon]Source :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
Descripteurs français
- KwdFr :
- Actines (biosynthèse), Actines (génétique), Adolescent, Adulte, Chromosomes humains de la paire 7 (génétique), Délétion de segment de chromosome, Enfant, Enfant d'âge préscolaire, Expression des gènes (génétique), Femelle, Haploinsuffisance (génétique), Humains, Incapacités de développement (génétique), Incapacités de développement (physiopathologie), Lymphocytes (anatomopathologie), Lymphocytes (métabolisme), Malformations multiples (génétique), Malformations multiples (physiopathologie), Microcéphalie (génétique), Microcéphalie (physiopathologie), Mâle, Nanisme (génétique), Nanisme (physiopathologie), Nourrisson, Nouveau-né, Phénotype.
- MESH :
- anatomopathologie : Lymphocytes.
- biosynthèse : Actines.
- génétique : Actines, Chromosomes humains de la paire 7, Expression des gènes, Haploinsuffisance, Incapacités de développement, Malformations multiples, Microcéphalie, Nanisme.
- métabolisme : Lymphocytes.
- physiopathologie : Incapacités de développement, Malformations multiples, Microcéphalie, Nanisme.
- Adolescent, Adulte, Délétion de segment de chromosome, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Mâle, Nourrisson, Nouveau-né, Phénotype.
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
Affiliations:
- Australie, Belgique, France, Japon
- Nouvelle-Galles du Sud, Région de Kantō
- Sydney, Tokyo
- Université de Sydney
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pubmed:27633570Le document en format XML
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<author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name>
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<author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name>
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<author><name sortKey="Yamamoto, Toshiyuki" sort="Yamamoto, Toshiyuki" uniqKey="Yamamoto T" first="Toshiyuki" last="Yamamoto">Toshiyuki Yamamoto</name>
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<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="KwdFr" xml:lang="fr"><term>Actines (biosynthèse)</term>
<term>Actines (génétique)</term>
<term>Adolescent</term>
<term>Adulte</term>
<term>Chromosomes humains de la paire 7 (génétique)</term>
<term>Délétion de segment de chromosome</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Expression des gènes (génétique)</term>
<term>Femelle</term>
<term>Haploinsuffisance (génétique)</term>
<term>Humains</term>
<term>Incapacités de développement (génétique)</term>
<term>Incapacités de développement (physiopathologie)</term>
<term>Lymphocytes (anatomopathologie)</term>
<term>Lymphocytes (métabolisme)</term>
<term>Malformations multiples (génétique)</term>
<term>Malformations multiples (physiopathologie)</term>
<term>Microcéphalie (génétique)</term>
<term>Microcéphalie (physiopathologie)</term>
<term>Mâle</term>
<term>Nanisme (génétique)</term>
<term>Nanisme (physiopathologie)</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="biosynthesis" xml:lang="en"><term>Actins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="biosynthèse" xml:lang="fr"><term>Actines</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="génétique" xml:lang="fr"><term>Actines</term>
<term>Chromosomes humains de la paire 7</term>
<term>Expression des gènes</term>
<term>Haploinsuffisance</term>
<term>Incapacités de développement</term>
<term>Malformations multiples</term>
<term>Microcéphalie</term>
<term>Nanisme</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lymphocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Lymphocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Incapacités de développement</term>
<term>Malformations multiples</term>
<term>Microcéphalie</term>
<term>Nanisme</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>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Délétion de segment de chromosome</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
</keywords>
</textClass>
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<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>
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<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>
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</History>
<PublicationStatus>ppublish</PublicationStatus>
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<ArticleId IdType="doi">10.1016/j.ejmg.2016.09.008</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Japon</li>
</country>
<region><li>Nouvelle-Galles du Sud</li>
<li>Région de Kantō</li>
</region>
<settlement><li>Sydney</li>
<li>Tokyo</li>
</settlement>
<orgName><li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Japon"><region name="Région de Kantō"><name sortKey="Shimojima, Keiko" sort="Shimojima, Keiko" uniqKey="Shimojima K" first="Keiko" last="Shimojima">Keiko Shimojima</name>
</region>
<name sortKey="Doumoto, Tomotsune" sort="Doumoto, Tomotsune" uniqKey="Doumoto T" first="Tomotsune" last="Doumoto">Tomotsune Doumoto</name>
<name sortKey="Narai, Satoshi" sort="Narai, Satoshi" uniqKey="Narai S" first="Satoshi" last="Narai">Satoshi Narai</name>
<name sortKey="Sangu, Noriko" sort="Sangu, Noriko" uniqKey="Sangu N" first="Noriko" last="Sangu">Noriko Sangu</name>
<name sortKey="Togawa, Masami" sort="Togawa, Masami" uniqKey="Togawa M" first="Masami" last="Togawa">Masami Togawa</name>
<name sortKey="Yamamoto, Toshiyuki" sort="Yamamoto, Toshiyuki" uniqKey="Yamamoto T" first="Toshiyuki" last="Yamamoto">Toshiyuki Yamamoto</name>
</country>
<country name="Belgique"><noRegion><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name>
</noRegion>
<name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name>
</country>
<country name="Australie"><noRegion><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name>
</noRegion>
<name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name>
<name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name>
</country>
<country name="France"><noRegion><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name>
</noRegion>
<name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name>
</country>
</tree>
</affiliations>
</record>
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