Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Identifieur interne : 003B31 ( Main/Exploration ); précédent : 003B30; suivant : 003B32Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Auteurs : Sarah Grotto [France] ; Valérie Drouin-Garraud [France] ; Katrin Ounap [Estonie] ; Helen Puusepp-Benazzouz [Australie] ; Janneke Schuurs-Hoeijmakers [Pays-Bas] ; Nathalie Le Meur [France] ; Pascal Chambon [France] ; Séverine Fehrenbach [France] ; Hans Van Bokhoven [Pays-Bas] ; Thierry Frébourg [France] ; Arjan P M. De Brouwer [Pays-Bas] ; Pascale Saugier-Veber [France]Source :
- European journal of medical genetics [ 1878-0849 ] ; 2014.
Descripteurs français
- KwdFr :
- Adulte, Analyse de mutations d'ADN, Chromosomes X humains, Codon non-sens, Déficience intellectuelle (génétique), Facteurs de transcription (génétique), Humains, Jeune adulte, Malformations multiples (génétique), Mâle, Mégalencéphalie (génétique), Pedigree, Séquence nucléotidique, Études d'associations génétiques.
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Transcription Factors.
- chemical : Codon, Nonsense.
- genetics : Abnormalities, Multiple, Intellectual Disability, Megalencephaly.
- Adult, Base Sequence, Chromosomes, Human, X, DNA Mutational Analysis, Genetic Association Studies, Humans, Male, Pedigree, Young Adult.
Abstract
Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus.
DOI: 10.1016/j.ejmg.2013.12.012
PubMed: 24462886
Affiliations:
- Australie, Estonie, France, Pays-Bas
- Gueldre, Haute-Normandie, Nouvelle-Galles du Sud, Région Normandie
- Nimègue, Rouen, Sydney
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Department of Pediatrics, University of Tartu, Tartu, Estonia.</nlm:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Puusepp Benazzouz, Helen" sort="Puusepp Benazzouz, Helen" uniqKey="Puusepp Benazzouz H" first="Helen" last="Puusepp-Benazzouz">Helen Puusepp-Benazzouz</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke" sort="Schuurs Hoeijmakers, Janneke" uniqKey="Schuurs Hoeijmakers J" first="Janneke" last="Schuurs-Hoeijmakers">Janneke Schuurs-Hoeijmakers</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Le Meur, Nathalie" sort="Le Meur, Nathalie" uniqKey="Le Meur N" first="Nathalie" last="Le Meur">Nathalie Le Meur</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cytogenetics, EFS Normandie, Bois-Guillaume, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cytogenetics, EFS Normandie, Bois-Guillaume</wicri:regionArea><wicri:noRegion>Bois-Guillaume</wicri:noRegion><wicri:noRegion>Bois-Guillaume</wicri:noRegion></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Fehrenbach, Severine" sort="Fehrenbach, Severine" uniqKey="Fehrenbach S" first="Séverine" last="Fehrenbach">Séverine Fehrenbach</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Rouen University Hospital, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Rouen University Hospital, Rouen, France; 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Department of Pediatrics, University of Tartu, Tartu, Estonia.</nlm:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu</wicri:regionArea><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Puusepp Benazzouz, Helen" sort="Puusepp Benazzouz, Helen" uniqKey="Puusepp Benazzouz H" first="Helen" last="Puusepp-Benazzouz">Helen Puusepp-Benazzouz</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke" sort="Schuurs Hoeijmakers, Janneke" uniqKey="Schuurs Hoeijmakers J" first="Janneke" last="Schuurs-Hoeijmakers">Janneke Schuurs-Hoeijmakers</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Le Meur, Nathalie" sort="Le Meur, Nathalie" uniqKey="Le Meur N" first="Nathalie" last="Le Meur">Nathalie Le Meur</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cytogenetics, EFS Normandie, Bois-Guillaume, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cytogenetics, EFS Normandie, Bois-Guillaume</wicri:regionArea><wicri:noRegion>Bois-Guillaume</wicri:noRegion><wicri:noRegion>Bois-Guillaume</wicri:noRegion></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Fehrenbach, Severine" sort="Fehrenbach, Severine" uniqKey="Fehrenbach S" first="Séverine" last="Fehrenbach">Séverine Fehrenbach</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Rouen University Hospital, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Saugier Veber, Pascale" sort="Saugier Veber, Pascale" uniqKey="Saugier Veber P" first="Pascale" last="Saugier-Veber">Pascale Saugier-Veber</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address: Pascale.Saugier-Veber@chu-rouen.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Adult</term><term>Base Sequence</term><term>Chromosomes, Human, X</term><term>Codon, Nonsense</term><term>DNA Mutational Analysis</term><term>Genetic Association Studies</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Male</term><term>Megalencephaly (genetics)</term><term>Pedigree</term><term>Transcription Factors (genetics)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Chromosomes X humains</term><term>Codon non-sens</term><term>Déficience intellectuelle (génétique)</term><term>Facteurs de transcription (génétique)</term><term>Humains</term><term>Jeune adulte</term><term>Malformations multiples (génétique)</term><term>Mâle</term><term>Mégalencéphalie (génétique)</term><term>Pedigree</term><term>Séquence nucléotidique</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Transcription Factors</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Megalencephaly</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Facteurs de transcription</term><term>Malformations multiples</term><term>Mégalencéphalie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Base Sequence</term><term>Chromosomes, Human, X</term><term>DNA Mutational Analysis</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Chromosomes X humains</term><term>Codon non-sens</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Pedigree</term><term>Séquence nucléotidique</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Estonie</li><li>France</li><li>Pays-Bas</li></country><region><li>Gueldre</li><li>Haute-Normandie</li><li>Nouvelle-Galles du Sud</li><li>Région Normandie</li></region><settlement><li>Nimègue</li><li>Rouen</li><li>Sydney</li></settlement></list><tree><country name="France"><region name="Région Normandie"><name sortKey="Grotto, Sarah" sort="Grotto, Sarah" uniqKey="Grotto S" first="Sarah" last="Grotto">Sarah Grotto</name></region><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><name sortKey="Fehrenbach, Severine" sort="Fehrenbach, Severine" uniqKey="Fehrenbach S" first="Séverine" last="Fehrenbach">Séverine Fehrenbach</name><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><name sortKey="Le Meur, Nathalie" sort="Le Meur, Nathalie" uniqKey="Le Meur N" first="Nathalie" last="Le Meur">Nathalie Le Meur</name><name sortKey="Saugier Veber, Pascale" sort="Saugier Veber, Pascale" uniqKey="Saugier Veber P" first="Pascale" last="Saugier-Veber">Pascale Saugier-Veber</name></country><country name="Estonie"><noRegion><name sortKey="Ounap, Katrin" sort="Ounap, Katrin" uniqKey="Ounap K" first="Katrin" last="Ounap">Katrin Ounap</name></noRegion></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Puusepp Benazzouz, Helen" sort="Puusepp Benazzouz, Helen" uniqKey="Puusepp Benazzouz H" first="Helen" last="Puusepp-Benazzouz">Helen Puusepp-Benazzouz</name></region></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Schuurs Hoeijmakers, Janneke" sort="Schuurs Hoeijmakers, Janneke" uniqKey="Schuurs Hoeijmakers J" first="Janneke" last="Schuurs-Hoeijmakers">Janneke Schuurs-Hoeijmakers</name></region><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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