AustralieFrV1, Main, Exploration, bibRecord, 003A49

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

Identifieur interne : 003A49 ( Main/Exploration ); précédent : 003A48; suivant : 003A50

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

Auteurs : Kagistia H. Utami [Singapour] ; Axel M. Hillmer [Singapour] ; Irene Aksoy [Singapour] ; Elaine G. Y. Chew [Singapour] ; Audrey S. M. Teo [Singapour] ; Zhenshui Zhang [Singapour] ; Charlie W. H. Lee [Singapour] ; Pauline J. Chen [Singapour] ; Chan Chee Seng [Singapour] ; Pramila N. Ariyaratne [Singapour] ; Sigrid L. Rouam [Singapour] ; Lim Seong Soo [Singapour] ; Saira Yousoof [Australie] ; Ivan Prokudin [Australie] ; Gregory Peters [Australie] ; Felicity Collins [Australie] ; Meredith Wilson [Australie] ; Alyson Kakakios [Australie] ; Georges Haddad [France] ; Arnaud Menuet [France] ; Olivier Perche [France] ; Stacey Kiat Hong Tay [Singapour] ; Ken W. K. Sung [Singapour] ; Xiaoan Ruan [Singapour] ; Yijun Ruan [Singapour] ; Edison T. Liu [Singapour] ; Sylvain Briault [France] ; Robyn V. Jamieson [Australie] ; Sonia Davila [Singapour] ; Valere Cacheux [Singapour]

Source :

PLoS ONE [ 1932-6203 ] ; 2014.

RBID : PMC:3946304

Descripteurs français

English descriptors

Abstract

Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large-insert (7–11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. We characterized structural variants (SVs) specific to each individual, including those matching the chromosomal breakpoints. Refinement of these regions by Sanger sequencing resulted in the identification of five disrupted genes in three individuals: guanine nucleotide binding protein, q polypeptide (GNAQ), RNA-binding protein, fox-1 homolog (RBFOX3), unc-5 homolog D (C.elegans) (UNC5D), transmembrane protein 47 (TMEM47), and X-linked inhibitor of apoptosis (XIAP). Among them, XIAP is the causative gene for the immunodeficiency phenotype seen in the patient. The remaining genes displayed specific expression in the fetal brain and have known biologically relevant functions in brain development, suggesting putative candidate genes for neurodevelopmental phenotypes. This study demonstrates the application of NGS technologies in mapping individual gene disruptions in ABCR as a resource for deciphering candidate genes in human neurodevelopmental disorders (NDDs).

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946304

DOI: 10.1371/journal.pone.0090852
PubMed: 24603971
PubMed Central: 3946304

Affiliations:

Le document en format XML

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<author><name sortKey="Seng, Chan Chee" sort="Seng, Chan Chee" uniqKey="Seng C" first="Chan Chee" last="Seng">Chan Chee Seng</name>
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<author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
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<author><name sortKey="Haddad, Georges" sort="Haddad, Georges" uniqKey="Haddad G" first="Georges" last="Haddad">Georges Haddad</name>
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<author><name sortKey="Perche, Olivier" sort="Perche, Olivier" uniqKey="Perche O" first="Olivier" last="Perche">Olivier Perche</name>
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<author><name sortKey="Tay, Stacey Kiat Hong" sort="Tay, Stacey Kiat Hong" uniqKey="Tay S" first="Stacey Kiat Hong" last="Tay">Stacey Kiat Hong Tay</name>
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<author><name sortKey="Sung, Ken W K" sort="Sung, Ken W K" uniqKey="Sung K" first="Ken W. K." last="Sung">Ken W. K. Sung</name>
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<author><name sortKey="Ruan, Xiaoan" sort="Ruan, Xiaoan" uniqKey="Ruan X" first="Xiaoan" last="Ruan">Xiaoan Ruan</name>
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<author><name sortKey="Ruan, Yijun" sort="Ruan, Yijun" uniqKey="Ruan Y" first="Yijun" last="Ruan">Yijun Ruan</name>
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<author><name sortKey="Liu, Edison T" sort="Liu, Edison T" uniqKey="Liu E" first="Edison T." last="Liu">Edison T. Liu</name>
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<author><name sortKey="Davila, Sonia" sort="Davila, Sonia" uniqKey="Davila S" first="Sonia" last="Davila">Sonia Davila</name>
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<author><name sortKey="Cacheux, Valere" sort="Cacheux, Valere" uniqKey="Cacheux V" first="Valere" last="Cacheux">Valere Cacheux</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders</title>
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<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Human Genetics, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff13"><addr-line>Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore</wicri:regionArea>
<orgName type="university">Université nationale de Singapour</orgName>
</affiliation>
</author>
<author><name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M." last="Hillmer">Axel M. Hillmer</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Aksoy, Irene" sort="Aksoy, Irene" uniqKey="Aksoy I" first="Irene" last="Aksoy">Irene Aksoy</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Stem Cells and Developmental Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Stem Cells and Developmental Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chew, Elaine G Y" sort="Chew, Elaine G Y" uniqKey="Chew E" first="Elaine G. Y." last="Chew">Elaine G. Y. Chew</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S. M." last="Teo">Audrey S. M. Teo</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zhang, Zhenshui" sort="Zhang, Zhenshui" uniqKey="Zhang Z" first="Zhenshui" last="Zhang">Zhenshui Zhang</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lee, Charlie W H" sort="Lee, Charlie W H" uniqKey="Lee C" first="Charlie W. H." last="Lee">Charlie W. H. Lee</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chen, Pauline J" sort="Chen, Pauline J" uniqKey="Chen P" first="Pauline J." last="Chen">Pauline J. Chen</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Seng, Chan Chee" sort="Seng, Chan Chee" uniqKey="Seng C" first="Chan Chee" last="Seng">Chan Chee Seng</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><addr-line>Scientific & Research Computing, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Scientific & Research Computing, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ariyaratne, Pramila N" sort="Ariyaratne, Pramila N" uniqKey="Ariyaratne P" first="Pramila N." last="Ariyaratne">Pramila N. Ariyaratne</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rouam, Sigrid L" sort="Rouam, Sigrid L" uniqKey="Rouam S" first="Sigrid L." last="Rouam">Sigrid L. Rouam</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Soo, Lim Seong" sort="Soo, Lim Seong" uniqKey="Soo L" first="Lim Seong" last="Soo">Lim Seong Soo</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Human Genetics, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Human Genetics, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yousoof, Saira" sort="Yousoof, Saira" uniqKey="Yousoof S" first="Saira" last="Yousoof">Saira Yousoof</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff7"><addr-line>Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, 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="Prokudin, Ivan" sort="Prokudin, Ivan" uniqKey="Prokudin I" first="Ivan" last="Prokudin">Ivan Prokudin</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff7"><addr-line>Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, 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="Peters, Gregory" sort="Peters, Gregory" uniqKey="Peters G" first="Gregory" last="Peters">Gregory Peters</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><addr-line>Department of Cytogenetics, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Cytogenetics, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><addr-line>Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wilson, Meredith" sort="Wilson, Meredith" uniqKey="Wilson M" first="Meredith" last="Wilson">Meredith Wilson</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><addr-line>Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kakakios, Alyson" sort="Kakakios, Alyson" uniqKey="Kakakios A" first="Alyson" last="Kakakios">Alyson Kakakios</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><addr-line>Department of Immunology, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Immunology, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Haddad, Georges" sort="Haddad, Georges" uniqKey="Haddad G" first="Georges" last="Haddad">Georges Haddad</name>
<affiliation wicri:level="3"><nlm:aff id="aff11"><addr-line>Unité de Génétique, Centre Hospitalier, Blois, France</addr-line>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité de Génétique, Centre Hospitalier, Blois</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Blois</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Menuet, Arnaud" sort="Menuet, Arnaud" uniqKey="Menuet A" first="Arnaud" last="Menuet">Arnaud Menuet</name>
<affiliation wicri:level="3"><nlm:aff id="aff12"><addr-line>Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans, France</addr-line>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Orléans</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Perche, Olivier" sort="Perche, Olivier" uniqKey="Perche O" first="Olivier" last="Perche">Olivier Perche</name>
<affiliation wicri:level="3"><nlm:aff id="aff12"><addr-line>Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans, France</addr-line>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Orléans</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tay, Stacey Kiat Hong" sort="Tay, Stacey Kiat Hong" uniqKey="Tay S" first="Stacey Kiat Hong" last="Tay">Stacey Kiat Hong Tay</name>
<affiliation wicri:level="4"><nlm:aff id="aff13"><addr-line>Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore</wicri:regionArea>
<orgName type="university">Université nationale de Singapour</orgName>
</affiliation>
</author>
<author><name sortKey="Sung, Ken W K" sort="Sung, Ken W K" uniqKey="Sung K" first="Ken W. K." last="Sung">Ken W. K. Sung</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Computational and Mathematical Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ruan, Xiaoan" sort="Ruan, Xiaoan" uniqKey="Ruan X" first="Xiaoan" last="Ruan">Xiaoan Ruan</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><addr-line>Genome Technology and Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Genome Technology and Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ruan, Yijun" sort="Ruan, Yijun" uniqKey="Ruan Y" first="Yijun" last="Ruan">Yijun Ruan</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><addr-line>Genome Technology and Biology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Genome Technology and Biology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liu, Edison T" sort="Liu, Edison T" uniqKey="Liu E" first="Edison T." last="Liu">Edison T. Liu</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name>
<affiliation wicri:level="3"><nlm:aff id="aff12"><addr-line>Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans, France</addr-line>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Orléans</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jamieson, Robyn V" sort="Jamieson, Robyn V" uniqKey="Jamieson R" first="Robyn V." last="Jamieson">Robyn V. Jamieson</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><addr-line>Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales, Australia</addr-line>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Davila, Sonia" sort="Davila, Sonia" uniqKey="Davila S" first="Sonia" last="Davila">Sonia Davila</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Human Genetics, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Human Genetics, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cacheux, Valere" sort="Cacheux, Valere" uniqKey="Cacheux V" first="Valere" last="Cacheux">Valere Cacheux</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Human Genetics, Genome Institute of Singapore, Singapore, Singapore</addr-line>
</nlm:aff>
<country xml:lang="fr">Singapour</country>
<wicri:regionArea>Human Genetics, Genome Institute of Singapore, Singapore</wicri:regionArea>
<wicri:noRegion>Singapore</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">PLoS ONE</title>
<idno type="eISSN">1932-6203</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term>
<term>Chromosome Breakpoints</term>
<term>Chromosome Inversion</term>
<term>DNA Copy Number Variations</term>
<term>Developmental Disabilities (genetics)</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Language Development Disorders (genetics)</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</term>
<term>Sequence Analysis, DNA</term>
<term>Translocation, Genetic</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term>
<term>Données de séquences moléculaires</term>
<term>Femelle</term>
<term>Humains</term>
<term>Incapacités de développement (génétique)</term>
<term>Inversion chromosomique</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Points de cassure de chromosome</term>
<term>Séquence nucléotidique</term>
<term>Séquençage nucléotidique à haut débit</term>
<term>Translocation génétique</term>
<term>Troubles du développement du langage (génétique)</term>
<term>Variations de nombre de copies de segment d'ADN</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Developmental Disabilities</term>
<term>Language Development Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Incapacités de développement</term>
<term>Troubles du développement du langage</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term>
<term>Chromosome Breakpoints</term>
<term>Chromosome Inversion</term>
<term>DNA Copy Number Variations</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</term>
<term>Sequence Analysis, DNA</term>
<term>Translocation, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term>
<term>Données de séquences moléculaires</term>
<term>Femelle</term>
<term>Humains</term>
<term>Inversion chromosomique</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Points de cassure de chromosome</term>
<term>Séquence nucléotidique</term>
<term>Séquençage nucléotidique à haut débit</term>
<term>Translocation génétique</term>
<term>Variations de nombre de copies de segment d'ADN</term>
<term>Études d'associations génétiques</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large-insert (7–11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. We characterized structural variants (SVs) specific to each individual, including those matching the chromosomal breakpoints. Refinement of these regions by Sanger sequencing resulted in the identification of five disrupted genes in three individuals: guanine nucleotide binding protein, q polypeptide <italic>(GNAQ),</italic>
 RNA-binding protein, fox-1 homolog <italic>(RBFOX3),</italic>
 unc-5 homolog D (<italic>C.elegans) (UNC5D</italic>
), transmembrane protein 47 (<italic>TMEM47</italic>
), and X-linked inhibitor of apoptosis (<italic>XIAP</italic>
). Among them, <italic>XIAP</italic>
 is the causative gene for the immunodeficiency phenotype seen in the patient. The remaining genes displayed specific expression in the fetal brain and have known biologically relevant functions in brain development, suggesting putative candidate genes for neurodevelopmental phenotypes. This study demonstrates the application of NGS technologies in mapping individual gene disruptions in ABCR as a resource for deciphering candidate genes in human neurodevelopmental disorders (NDDs).</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Fantes, Ja" uniqKey="Fantes J">JA Fantes</name>
</author>
<author><name sortKey="Boland, E" uniqKey="Boland E">E Boland</name>
</author>
<author><name sortKey="Ramsay, J" uniqKey="Ramsay J">J Ramsay</name>
</author>
<author><name sortKey="Donnai, D" uniqKey="Donnai D">D Donnai</name>
</author>
<author><name sortKey="Splitt, M" uniqKey="Splitt M">M Splitt</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Warburton, D" uniqKey="Warburton D">D Warburton</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Macgregor, Dj" uniqKey="Macgregor D">DJ MacGregor</name>
</author>
<author><name sortKey="Imrie, S" uniqKey="Imrie S">S Imrie</name>
</author>
<author><name sortKey="Tolmie, Jl" uniqKey="Tolmie J">JL Tolmie</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Vandeweyer, G" uniqKey="Vandeweyer G">G Vandeweyer</name>
</author>
<author><name sortKey="Kooy, Rf" uniqKey="Kooy R">RF Kooy</name>
</author>
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<author><name sortKey="Hariharan, M" uniqKey="Hariharan M">M Hariharan</name>
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<author><name sortKey="Cheng, Y" uniqKey="Cheng Y">Y Cheng</name>
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<author><name sortKey="Schaub, Ma" uniqKey="Schaub M">MA Schaub</name>
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<author><name sortKey="Vierstra, J" uniqKey="Vierstra J">J Vierstra</name>
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<li>France</li>
<li>Singapour</li>
</country>
<region><li>Centre-Val de Loire</li>
<li>Nouvelle-Galles du Sud</li>
<li>Région Centre</li>
</region>
<settlement><li>Blois</li>
<li>Orléans</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université de Sydney</li>
<li>Université nationale de Singapour</li>
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<name sortKey="Chew, Elaine G Y" sort="Chew, Elaine G Y" uniqKey="Chew E" first="Elaine G. Y." last="Chew">Elaine G. Y. Chew</name>
<name sortKey="Davila, Sonia" sort="Davila, Sonia" uniqKey="Davila S" first="Sonia" last="Davila">Sonia Davila</name>
<name sortKey="Hillmer, Axel M" sort="Hillmer, Axel M" uniqKey="Hillmer A" first="Axel M." last="Hillmer">Axel M. Hillmer</name>
<name sortKey="Lee, Charlie W H" sort="Lee, Charlie W H" uniqKey="Lee C" first="Charlie W. H." last="Lee">Charlie W. H. Lee</name>
<name sortKey="Liu, Edison T" sort="Liu, Edison T" uniqKey="Liu E" first="Edison T." last="Liu">Edison T. Liu</name>
<name sortKey="Rouam, Sigrid L" sort="Rouam, Sigrid L" uniqKey="Rouam S" first="Sigrid L." last="Rouam">Sigrid L. Rouam</name>
<name sortKey="Ruan, Xiaoan" sort="Ruan, Xiaoan" uniqKey="Ruan X" first="Xiaoan" last="Ruan">Xiaoan Ruan</name>
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<name sortKey="Soo, Lim Seong" sort="Soo, Lim Seong" uniqKey="Soo L" first="Lim Seong" last="Soo">Lim Seong Soo</name>
<name sortKey="Sung, Ken W K" sort="Sung, Ken W K" uniqKey="Sung K" first="Ken W. K." last="Sung">Ken W. K. Sung</name>
<name sortKey="Tay, Stacey Kiat Hong" sort="Tay, Stacey Kiat Hong" uniqKey="Tay S" first="Stacey Kiat Hong" last="Tay">Stacey Kiat Hong Tay</name>
<name sortKey="Teo, Audrey S M" sort="Teo, Audrey S M" uniqKey="Teo A" first="Audrey S. M." last="Teo">Audrey S. M. Teo</name>
<name sortKey="Utami, Kagistia H" sort="Utami, Kagistia H" uniqKey="Utami K" first="Kagistia H." last="Utami">Kagistia H. Utami</name>
<name sortKey="Zhang, Zhenshui" sort="Zhang, Zhenshui" uniqKey="Zhang Z" first="Zhenshui" last="Zhang">Zhenshui Zhang</name>
</country>
<country name="Australie"><noRegion><name sortKey="Yousoof, Saira" sort="Yousoof, Saira" uniqKey="Yousoof S" first="Saira" last="Yousoof">Saira Yousoof</name>
</noRegion>
<name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
<name sortKey="Jamieson, Robyn V" sort="Jamieson, Robyn V" uniqKey="Jamieson R" first="Robyn V." last="Jamieson">Robyn V. Jamieson</name>
<name sortKey="Kakakios, Alyson" sort="Kakakios, Alyson" uniqKey="Kakakios A" first="Alyson" last="Kakakios">Alyson Kakakios</name>
<name sortKey="Peters, Gregory" sort="Peters, Gregory" uniqKey="Peters G" first="Gregory" last="Peters">Gregory Peters</name>
<name sortKey="Prokudin, Ivan" sort="Prokudin, Ivan" uniqKey="Prokudin I" first="Ivan" last="Prokudin">Ivan Prokudin</name>
<name sortKey="Prokudin, Ivan" sort="Prokudin, Ivan" uniqKey="Prokudin I" first="Ivan" last="Prokudin">Ivan Prokudin</name>
<name sortKey="Wilson, Meredith" sort="Wilson, Meredith" uniqKey="Wilson M" first="Meredith" last="Wilson">Meredith Wilson</name>
<name sortKey="Yousoof, Saira" sort="Yousoof, Saira" uniqKey="Yousoof S" first="Saira" last="Yousoof">Saira Yousoof</name>
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<country name="France"><region name="Centre-Val de Loire"><name sortKey="Haddad, Georges" sort="Haddad, Georges" uniqKey="Haddad G" first="Georges" last="Haddad">Georges Haddad</name>
</region>
<name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name>
<name sortKey="Menuet, Arnaud" sort="Menuet, Arnaud" uniqKey="Menuet A" first="Arnaud" last="Menuet">Arnaud Menuet</name>
<name sortKey="Perche, Olivier" sort="Perche, Olivier" uniqKey="Perche O" first="Olivier" last="Perche">Olivier Perche</name>
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</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

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	Serveur d'exploration sur les relations entre la France et l'Australie
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