7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Identifieur interne : 002528 ( Main/Exploration ); précédent : 002527; suivant : 0025297p22.1 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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<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 wicri:level="3"><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><country xml:lang="fr">Japon</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Narai, Satoshi" sort="Narai, Satoshi" uniqKey="Narai S" first="Satoshi" last="Narai">Satoshi Narai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori</wicri:regionArea><wicri:noRegion>Tottori</wicri:noRegion></affiliation></author><author><name sortKey="Togawa, Masami" sort="Togawa, Masami" uniqKey="Togawa M" first="Masami" last="Togawa">Masami Togawa</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori</wicri:regionArea><wicri:noRegion>Tottori</wicri:noRegion></affiliation></author><author><name sortKey="Doumoto, Tomotsune" sort="Doumoto, Tomotsune" uniqKey="Doumoto T" first="Tomotsune" last="Doumoto">Tomotsune Doumoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori</wicri:regionArea><wicri:noRegion>Tottori</wicri:noRegion></affiliation></author><author><name sortKey="Sangu, Noriko" sort="Sangu, Noriko" uniqKey="Sangu N" first="Noriko" last="Sangu">Noriko Sangu</name><affiliation wicri:level="3"><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><country xml:lang="fr">Japon</country><wicri:regionArea>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></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 wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name><affiliation wicri:level="4"><nlm:affiliation>Centre for Genetic Education, University of Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Genetic Education, University of Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="1"><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille</wicri:regionArea><wicri:noRegion>59000 Lille</wicri:noRegion><wicri:noRegion>59000 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation wicri:level="1"><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille</wicri:regionArea><wicri:noRegion>59000 Lille</wicri:noRegion><wicri:noRegion>59000 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Yamamoto, Toshiyuki" sort="Yamamoto, Toshiyuki" uniqKey="Yamamoto T" first="Toshiyuki" last="Yamamoto">Toshiyuki Yamamoto</name><affiliation wicri:level="3"><nlm:affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></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><idno type="wicri:Area/PubMed/Curation">001792</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001792</idno><idno type="wicri:Area/PubMed/Checkpoint">001792</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001792</idno><idno type="wicri:Area/Ncbi/Merge">003B48</idno><idno type="wicri:Area/Ncbi/Curation">003B48</idno><idno type="wicri:Area/Ncbi/Checkpoint">003B48</idno><idno type="wicri:Area/Main/Merge">002527</idno><idno type="wicri:Area/Main/Curation">002528</idno><idno type="wicri:Area/Main/Exploration">002528</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 wicri:level="3"><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><country xml:lang="fr">Japon</country><wicri:regionArea>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</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Narai, Satoshi" sort="Narai, Satoshi" uniqKey="Narai S" first="Satoshi" last="Narai">Satoshi Narai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori</wicri:regionArea><wicri:noRegion>Tottori</wicri:noRegion></affiliation></author><author><name sortKey="Togawa, Masami" sort="Togawa, Masami" uniqKey="Togawa M" first="Masami" last="Togawa">Masami Togawa</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori</wicri:regionArea><wicri:noRegion>Tottori</wicri:noRegion></affiliation></author><author><name sortKey="Doumoto, Tomotsune" sort="Doumoto, Tomotsune" uniqKey="Doumoto T" first="Tomotsune" last="Doumoto">Tomotsune Doumoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori</wicri:regionArea><wicri:noRegion>Tottori</wicri:noRegion></affiliation></author><author><name sortKey="Sangu, Noriko" sort="Sangu, Noriko" uniqKey="Sangu N" first="Noriko" last="Sangu">Noriko Sangu</name><affiliation wicri:level="3"><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><country xml:lang="fr">Japon</country><wicri:regionArea>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></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 wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></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 wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name><affiliation wicri:level="4"><nlm:affiliation>Centre for Genetic Education, University of Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Genetic Education, University of Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="1"><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille</wicri:regionArea><wicri:noRegion>59000 Lille</wicri:noRegion><wicri:noRegion>59000 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation wicri:level="1"><nlm:affiliation>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille</wicri:regionArea><wicri:noRegion>59000 Lille</wicri:noRegion><wicri:noRegion>59000 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Yamamoto, Toshiyuki" sort="Yamamoto, Toshiyuki" uniqKey="Yamamoto T" first="Toshiyuki" last="Yamamoto">Toshiyuki Yamamoto</name><affiliation wicri:level="3"><nlm:affiliation>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></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="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></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><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>Pour manipuler ce document sous Unix (Dilib)
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