Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Identifieur interne : 002709 ( PubMed/Corpus ); précédent : 002708; suivant : 002710Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Auteurs : Emily J. Todd ; Kyle S. Yau ; Royston Ong ; Jennie Slee ; George Mcgillivray ; Christopher P. Barnett ; Goknur Haliloglu ; Beril Talim ; Zuhal Akcoren ; Ariana Kariminejad ; Anita Cairns ; Nigel F. Clarke ; Mary-Louise Freckmann ; Norma B. Romero ; Denise Williams ; Caroline A. Sewry ; Alison Colley ; Monique M. Ryan ; Cathy Kiraly-Borri ; Padma Sivadorai ; Richard J N. Allcock ; David Beeson ; Susan Maxwell ; Mark R. Davis ; Nigel G. Laing ; Gianina RavenscroftSource :
- Orphanet journal of rare diseases [ 1750-1172 ] ; 2015.
English descriptors
- KwdEn :
- Amino Acid Sequence, Child, Child, Preschool, Cohort Studies, Female, High-Throughput Nucleotide Sequencing (methods), High-Throughput Nucleotide Sequencing (trends), Humans, Infant, Infant, Newborn, Male, Molecular Sequence Data, Neuromuscular Diseases (diagnosis), Neuromuscular Diseases (genetics), Pedigree, Prenatal Diagnosis (methods), Prenatal Diagnosis (trends).
- MESH :
- diagnosis : Neuromuscular Diseases.
- genetics : Neuromuscular Diseases.
- methods : High-Throughput Nucleotide Sequencing, Prenatal Diagnosis.
- trends : High-Throughput Nucleotide Sequencing, Prenatal Diagnosis.
- Amino Acid Sequence, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Infant, Newborn, Male, Molecular Sequence Data, Pedigree.
Abstract
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.
DOI: 10.1186/s13023-015-0364-0
PubMed: 26578207
Links to Exploration step
pubmed:26578207Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.</title><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J" last="Todd">Emily J. Todd</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. emilytodd@live.com.</nlm:affiliation></affiliation></author><author><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S" last="Yau">Kyle S. Yau</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. 20163622@student.uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Ong, Royston" sort="Ong, Royston" uniqKey="Ong R" first="Royston" last="Ong">Royston Ong</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. royston.ong@uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Slee, Jennie" sort="Slee, Jennie" uniqKey="Slee J" first="Jennie" last="Slee">Jennie Slee</name><affiliation><nlm:affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, , WA, Australia. jennie.slee@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation><nlm:affiliation>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, , VIC, Australia. george.mcgillivray@vcgs.org.au.</nlm:affiliation></affiliation></author><author><name sortKey="Barnett, Christopher P" sort="Barnett, Christopher P" uniqKey="Barnett C" first="Christopher P" last="Barnett">Christopher P. Barnett</name><affiliation><nlm:affiliation>Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. christopher.barnett@health.sa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name><affiliation><nlm:affiliation>Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. gtuncer@hacettepe.edu.tr.</nlm:affiliation></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation><nlm:affiliation>Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. btalim@hacettepe.edu.tr.</nlm:affiliation></affiliation></author><author><name sortKey="Akcoren, Zuhal" sort="Akcoren, Zuhal" uniqKey="Akcoren Z" first="Zuhal" last="Akcoren">Zuhal Akcoren</name><affiliation><nlm:affiliation>Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. zakcoren@hacettepe.edu.tr.</nlm:affiliation></affiliation></author><author><name sortKey="Kariminejad, Ariana" sort="Kariminejad, Ariana" uniqKey="Kariminejad A" first="Ariana" last="Kariminejad">Ariana Kariminejad</name><affiliation><nlm:affiliation>Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656, Iran. arianakariminejad@yahoo.com.</nlm:affiliation></affiliation></author><author><name sortKey="Cairns, Anita" sort="Cairns, Anita" uniqKey="Cairns A" first="Anita" last="Cairns">Anita Cairns</name><affiliation><nlm:affiliation>Royal Children's Hospital, Herston Road, Herson, 4029, , QLD, Australia. Anita_Cairns@health.qld.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F" last="Clarke">Nigel F. Clarke</name><affiliation><nlm:affiliation>Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, 2145, , NSW, Australia. nigel.clarke@health.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name><affiliation><nlm:affiliation>Sydney Children's Hospital, High Street, Randwick, 2031, , NSW, Australia. Mary-Louise.Freckmann@sesiahs.health.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B" last="Romero">Norma B. Romero</name><affiliation><nlm:affiliation>Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651, France. nb.romero@institut-myologie.org.</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:affiliation>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. denise.williams@bwnft.nhs.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A" last="Sewry">Caroline A. Sewry</name><affiliation><nlm:affiliation>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Colley, Alison" sort="Colley, Alison" uniqKey="Colley A" first="Alison" last="Colley">Alison Colley</name><affiliation><nlm:affiliation>Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, , NSW, Australia. alison.colley@sswahs.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M" last="Ryan">Monique M. Ryan</name><affiliation><nlm:affiliation>Department of Neurology, The Royal Children's Hospital, Melbourne, 3000, , VIC, Australia. monique.ryan@rch.org.au.</nlm:affiliation></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:affiliation>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, , WA, Australia. Cathy.Kiraly-Borri@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><affiliation><nlm:affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. padma.sivadorai@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J N" last="Allcock">Richard J N. Allcock</name><affiliation><nlm:affiliation>Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, , WA, Australia. richard.allcock@uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Beeson, David" sort="Beeson, David" uniqKey="Beeson D" first="David" last="Beeson">David Beeson</name><affiliation><nlm:affiliation>Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. david.beeson@ndcn.ox.ac.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Maxwell, Susan" sort="Maxwell, Susan" uniqKey="Maxwell S" first="Susan" last="Maxwell">Susan Maxwell</name><affiliation><nlm:affiliation>Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. susan.maxwell@imm.ox.ac.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R" last="Davis">Mark R. Davis</name><affiliation><nlm:affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. mark.davis@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G" last="Laing">Nigel G. Laing</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. nigel.laing@uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. gina.ravenscroft@perkins.uwa.edu.au.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26578207</idno><idno type="pmid">26578207</idno><idno type="doi">10.1186/s13023-015-0364-0</idno><idno type="wicri:Area/PubMed/Corpus">002709</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002709</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.</title><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J" last="Todd">Emily J. Todd</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. emilytodd@live.com.</nlm:affiliation></affiliation></author><author><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S" last="Yau">Kyle S. Yau</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. 20163622@student.uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Ong, Royston" sort="Ong, Royston" uniqKey="Ong R" first="Royston" last="Ong">Royston Ong</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. royston.ong@uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Slee, Jennie" sort="Slee, Jennie" uniqKey="Slee J" first="Jennie" last="Slee">Jennie Slee</name><affiliation><nlm:affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, , WA, Australia. jennie.slee@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation><nlm:affiliation>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, , VIC, Australia. george.mcgillivray@vcgs.org.au.</nlm:affiliation></affiliation></author><author><name sortKey="Barnett, Christopher P" sort="Barnett, Christopher P" uniqKey="Barnett C" first="Christopher P" last="Barnett">Christopher P. Barnett</name><affiliation><nlm:affiliation>Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. christopher.barnett@health.sa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name><affiliation><nlm:affiliation>Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. gtuncer@hacettepe.edu.tr.</nlm:affiliation></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation><nlm:affiliation>Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. btalim@hacettepe.edu.tr.</nlm:affiliation></affiliation></author><author><name sortKey="Akcoren, Zuhal" sort="Akcoren, Zuhal" uniqKey="Akcoren Z" first="Zuhal" last="Akcoren">Zuhal Akcoren</name><affiliation><nlm:affiliation>Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. zakcoren@hacettepe.edu.tr.</nlm:affiliation></affiliation></author><author><name sortKey="Kariminejad, Ariana" sort="Kariminejad, Ariana" uniqKey="Kariminejad A" first="Ariana" last="Kariminejad">Ariana Kariminejad</name><affiliation><nlm:affiliation>Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656, Iran. arianakariminejad@yahoo.com.</nlm:affiliation></affiliation></author><author><name sortKey="Cairns, Anita" sort="Cairns, Anita" uniqKey="Cairns A" first="Anita" last="Cairns">Anita Cairns</name><affiliation><nlm:affiliation>Royal Children's Hospital, Herston Road, Herson, 4029, , QLD, Australia. Anita_Cairns@health.qld.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F" last="Clarke">Nigel F. Clarke</name><affiliation><nlm:affiliation>Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, 2145, , NSW, Australia. nigel.clarke@health.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name><affiliation><nlm:affiliation>Sydney Children's Hospital, High Street, Randwick, 2031, , NSW, Australia. Mary-Louise.Freckmann@sesiahs.health.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B" last="Romero">Norma B. Romero</name><affiliation><nlm:affiliation>Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651, France. nb.romero@institut-myologie.org.</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:affiliation>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. denise.williams@bwnft.nhs.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A" last="Sewry">Caroline A. Sewry</name><affiliation><nlm:affiliation>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Colley, Alison" sort="Colley, Alison" uniqKey="Colley A" first="Alison" last="Colley">Alison Colley</name><affiliation><nlm:affiliation>Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, , NSW, Australia. alison.colley@sswahs.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M" last="Ryan">Monique M. Ryan</name><affiliation><nlm:affiliation>Department of Neurology, The Royal Children's Hospital, Melbourne, 3000, , VIC, Australia. monique.ryan@rch.org.au.</nlm:affiliation></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:affiliation>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, , WA, Australia. Cathy.Kiraly-Borri@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><affiliation><nlm:affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. padma.sivadorai@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J N" last="Allcock">Richard J N. Allcock</name><affiliation><nlm:affiliation>Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, , WA, Australia. richard.allcock@uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Beeson, David" sort="Beeson, David" uniqKey="Beeson D" first="David" last="Beeson">David Beeson</name><affiliation><nlm:affiliation>Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. david.beeson@ndcn.ox.ac.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Maxwell, Susan" sort="Maxwell, Susan" uniqKey="Maxwell S" first="Susan" last="Maxwell">Susan Maxwell</name><affiliation><nlm:affiliation>Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. susan.maxwell@imm.ox.ac.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R" last="Davis">Mark R. Davis</name><affiliation><nlm:affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. mark.davis@health.wa.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G" last="Laing">Nigel G. Laing</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. nigel.laing@uwa.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><nlm:affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. gina.ravenscroft@perkins.uwa.edu.au.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Orphanet journal of rare diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>High-Throughput Nucleotide Sequencing (trends)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Molecular Sequence Data</term><term>Neuromuscular Diseases (diagnosis)</term><term>Neuromuscular Diseases (genetics)</term><term>Pedigree</term><term>Prenatal Diagnosis (methods)</term><term>Prenatal Diagnosis (trends)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Neuromuscular Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Neuromuscular Diseases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>High-Throughput Nucleotide Sequencing</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" qualifier="trends" xml:lang="en"><term>High-Throughput Nucleotide Sequencing</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Molecular Sequence Data</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26578207</PMID><DateCreated><Year>2015</Year><Month>11</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>07</Month><Day>06</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>22</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1750-1172</ISSN><JournalIssue CitedMedium="Internet"><Volume>10</Volume><PubDate><Year>2015</Year><Month>Nov</Month><Day>17</Day></PubDate></JournalIssue><Title>Orphanet journal of rare diseases</Title><ISOAbbreviation>Orphanet J Rare Dis</ISOAbbreviation></Journal><ArticleTitle>Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.</ArticleTitle><Pagination><MedlinePgn>148</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13023-015-0364-0</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Genomic DNA samples from 45 patients with fetal akinesia/hypokinesia, arthrogryposis or severe congenital myopathies from 38 unrelated families were subjected to next generation sequencing. Clinical features and diagnoses for each patient were supplied by referring clinicians. Genomic DNA was used for either whole exome sequencing or a custom-designed neuromuscular sub-exomic supercapture array containing 277 genes responsible for various neuromuscular diseases. Candidate disease-causing variants were investigated and confirmed using Sanger sequencing. Some of the cases within this cohort study have been published previously as separate studies.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">A conclusive genetic diagnosis was achieved for 18 of the 38 families. Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG). In addition, novel mutations were identified in CHRND, KLHL40, NEB and RYR1. Autosomal dominant, autosomal recessive, X-linked, and de novo modes of inheritance were observed.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">By using next generation sequencing on a cohort of 38 unrelated families with fetal akinesia/hypokinesia, arthrogryposis, or severe congenital myopathy we therefore obtained a genetic diagnosis for 47% of families. This study highlights the power and capacity of next generation sequencing (i) to determine the aetiology of genetically heterogeneous neuromuscular diseases, (ii) to identify novel disease genes in small pedigrees or isolated cases and (iii) to refine the interplay between genetic diagnosis and clinical evaluation and management.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Todd</LastName><ForeName>Emily J</ForeName><Initials>EJ</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. emilytodd@live.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yau</LastName><ForeName>Kyle S</ForeName><Initials>KS</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. 20163622@student.uwa.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ong</LastName><ForeName>Royston</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. royston.ong@uwa.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Slee</LastName><ForeName>Jennie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, , WA, Australia. jennie.slee@health.wa.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McGillivray</LastName><ForeName>George</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, , VIC, Australia. george.mcgillivray@vcgs.org.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barnett</LastName><ForeName>Christopher P</ForeName><Initials>CP</Initials><AffiliationInfo><Affiliation>Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. christopher.barnett@health.sa.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haliloglu</LastName><ForeName>Goknur</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. gtuncer@hacettepe.edu.tr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Talim</LastName><ForeName>Beril</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. btalim@hacettepe.edu.tr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Akcoren</LastName><ForeName>Zuhal</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. zakcoren@hacettepe.edu.tr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kariminejad</LastName><ForeName>Ariana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656, Iran. arianakariminejad@yahoo.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cairns</LastName><ForeName>Anita</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Royal Children's Hospital, Herston Road, Herson, 4029, , QLD, Australia. Anita_Cairns@health.qld.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clarke</LastName><ForeName>Nigel F</ForeName><Initials>NF</Initials><AffiliationInfo><Affiliation>Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, 2145, , NSW, Australia. nigel.clarke@health.nsw.gov.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006, , NSW, Australia. nigel.clarke@health.nsw.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Freckmann</LastName><ForeName>Mary-Louise</ForeName><Initials>ML</Initials><AffiliationInfo><Affiliation>Sydney Children's Hospital, High Street, Randwick, 2031, , NSW, Australia. Mary-Louise.Freckmann@sesiahs.health.nsw.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Romero</LastName><ForeName>Norma B</ForeName><Initials>NB</Initials><AffiliationInfo><Affiliation>Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651, France. nb.romero@institut-myologie.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Denise</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. denise.williams@bwnft.nhs.uk.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. denise.williams@bwnft.nhs.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sewry</LastName><ForeName>Caroline A</ForeName><Initials>CA</Initials><AffiliationInfo><Affiliation>Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. c.sewry@imperial.ac.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Colley</LastName><ForeName>Alison</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, , NSW, Australia. alison.colley@sswahs.nsw.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ryan</LastName><ForeName>Monique M</ForeName><Initials>MM</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Royal Children's Hospital, Melbourne, 3000, , VIC, Australia. monique.ryan@rch.org.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kiraly-Borri</LastName><ForeName>Cathy</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, , WA, Australia. Cathy.Kiraly-Borri@health.wa.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sivadorai</LastName><ForeName>Padma</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. padma.sivadorai@health.wa.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Allcock</LastName><ForeName>Richard J N</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, , WA, Australia. richard.allcock@uwa.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Beeson</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. david.beeson@ndcn.ox.ac.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maxwell</LastName><ForeName>Susan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. susan.maxwell@imm.ox.ac.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Mark R</ForeName><Initials>MR</Initials><AffiliationInfo><Affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. mark.davis@health.wa.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laing</LastName><ForeName>Nigel G</ForeName><Initials>NG</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. nigel.laing@uwa.edu.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. nigel.laing@uwa.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ravenscroft</LastName><ForeName>Gianina</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. gina.ravenscroft@perkins.uwa.edu.au.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>MR/M006824/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>11</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Orphanet J Rare Dis</MedlineTA><NlmUniqueID>101266602</NlmUniqueID><ISSNLinking>1750-1172</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2014 May 1;94(5):734-44</RefSource><PMID Version="1">24726473</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2014 Jul;164A(7):1846-9</RefSource><PMID Version="1">24782201</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2015 Mar;52(3):195-202</RefSource><PMID Version="1">25612909</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2015 Mar 5;96(3):462-73</RefSource><PMID 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Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D059014" MajorTopicYN="N">High-Throughput Nucleotide Sequencing</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName><QualifierName UI="Q000639" MajorTopicYN="N">trends</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="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009468" MajorTopicYN="N">Neuromuscular Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011296" MajorTopicYN="N">Prenatal Diagnosis</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName><QualifierName UI="Q000639" MajorTopicYN="N">trends</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4650299</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>08</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>11</Month><Day>02</Day></PubMedPubDate><PubMedPubDate 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