Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seiz...
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| Published in | American journal of human genetics Vol. 95; no. 5; pp. 622 - 632 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
06.11.2014
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs∗6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. |
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| AbstractList | Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs super([lowast])6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs(∗)6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs(∗)6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs(∗)6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs*6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs ∗ 6), in CKAP2L , encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs∗6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome. |
| Author | Yigit, Gökhan Wollnik, Bernd Toliat, Mohammad Reza Kaygusuz, Emrah Sakakibara, Shin-ichi Clayton-Smith, Jill Fryer, Alan Altmüller, Janine Moosa, Shahida Donnai, Dian Thiele, Holger Urquhart, Jill E. Śmigiel, Robert Gillessen-Kaesbach, Gabriele Battaglia, Agatino Vasudevan, Pradeep Percin, Ferda Nürnberg, Peter Dobbie, Angus Noegel, Angelika Anna Beleggia, Filippo Tinschert, Sigrid Szczepanski, Sandra Nürnberg, Gudrun Newman, William G. Brancati, Francesco Hussain, Muhammad Sajid |
| AuthorAffiliation | 7 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany 9 Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany 15 Medical Genetics Unit, Policlinico Tor Vergata University Hospital, 00133 Rome, Italy 12 Department of Clinical Genetics, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK 2 Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany 8 Division of Human Genetics, Innsbruck Medical University, Innsbruck 6020, Austria 13 Department of Medical Genetics, Faculty of Medicine, Gazi University, 06500 Ankara, Turkey 17 Genetics Department, Wroclaw Medical University, 50-368 Wroclaw, Poland 14 Department of Medical, Oral, and Biotechnological Sciences, Gabriele D’Annunzio University of Chieti-Pescara, 66100 Chieti, Italy 4 Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychi |
| AuthorAffiliation_xml | – name: 16 Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK – name: 1 Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – name: 11 Department of Clinical Genetics, University Hospitals of Leicester NHS Foundation Trust, Leicester LE1 5WW, UK – name: 2 Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany – name: 15 Medical Genetics Unit, Policlinico Tor Vergata University Hospital, 00133 Rome, Italy – name: 7 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany – name: 8 Division of Human Genetics, Innsbruck Medical University, Innsbruck 6020, Austria – name: 14 Department of Medical, Oral, and Biotechnological Sciences, Gabriele D’Annunzio University of Chieti-Pescara, 66100 Chieti, Italy – name: 13 Department of Medical Genetics, Faculty of Medicine, Gazi University, 06500 Ankara, Turkey – name: 12 Department of Clinical Genetics, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK – name: 10 Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK – name: 18 Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany – name: 17 Genetics Department, Wroclaw Medical University, 50-368 Wroclaw, Poland – name: 3 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany – name: 6 Institute of Human Genetics, University of Cologne, Cologne, 50931, Germany – name: 4 Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, 56128 Calambrone, Pisa, Italy – name: 9 Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany – name: 5 Laboratory for Molecular Neurobiology, Graduate School of Human Sciences, Waseda University, Tokorozawa, Saitama 359-1192, Japan |
| Author_xml | – sequence: 1 givenname: Muhammad Sajid surname: Hussain fullname: Hussain, Muhammad Sajid organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 2 givenname: Agatino surname: Battaglia fullname: Battaglia, Agatino organization: Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, 56128 Calambrone, Pisa, Italy – sequence: 3 givenname: Sandra surname: Szczepanski fullname: Szczepanski, Sandra organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 4 givenname: Emrah surname: Kaygusuz fullname: Kaygusuz, Emrah organization: Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany – sequence: 5 givenname: Mohammad Reza surname: Toliat fullname: Toliat, Mohammad Reza organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 6 givenname: Shin-ichi surname: Sakakibara fullname: Sakakibara, Shin-ichi organization: Laboratory for Molecular Neurobiology, Graduate School of Human Sciences, Waseda University, Tokorozawa, Saitama 359-1192, Japan – sequence: 7 givenname: Janine surname: Altmüller fullname: Altmüller, Janine organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 8 givenname: Holger surname: Thiele fullname: Thiele, Holger organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 9 givenname: Gudrun surname: Nürnberg fullname: Nürnberg, Gudrun organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 10 givenname: Shahida surname: Moosa fullname: Moosa, Shahida organization: Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany – sequence: 11 givenname: Gökhan surname: Yigit fullname: Yigit, Gökhan organization: Center for Molecular Medicine Cologne, University of Cologne, 50931 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Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK – sequence: 17 givenname: Dian surname: Donnai fullname: Donnai, Dian organization: Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK – sequence: 18 givenname: Alan surname: Fryer fullname: Fryer, Alan organization: Department of Clinical Genetics, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK – sequence: 19 givenname: Ferda surname: Percin fullname: Percin, Ferda organization: Department of Medical Genetics, Faculty of Medicine, Gazi University, 06500 Ankara, Turkey – sequence: 20 givenname: Francesco surname: Brancati fullname: Brancati, Francesco organization: Department of Medical, Oral, and Biotechnological Sciences, Gabriele D’Annunzio University of Chieti-Pescara, 66100 Chieti, Italy – sequence: 21 givenname: Angus surname: Dobbie fullname: Dobbie, Angus organization: Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK – sequence: 22 givenname: Robert surname: Śmigiel fullname: Śmigiel, Robert organization: Genetics Department, Wroclaw Medical University, 50-368 Wroclaw, Poland – sequence: 23 givenname: Gabriele surname: Gillessen-Kaesbach fullname: Gillessen-Kaesbach, Gabriele organization: Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany – sequence: 24 givenname: Bernd surname: Wollnik fullname: Wollnik, Bernd organization: Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany – sequence: 25 givenname: Angelika Anna surname: Noegel fullname: Noegel, Angelika Anna organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany – sequence: 26 givenname: William G. surname: Newman fullname: Newman, William G. organization: Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK – sequence: 27 givenname: Peter surname: Nürnberg fullname: Nürnberg, Peter email: nuernberg@uni-koeln.de organization: Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/25439729$$D View this record in MEDLINE/PubMed |
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| Copyright | 2014 The American Society of Human Genetics Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Nov 6, 2014 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics |
| Copyright_xml | – notice: 2014 The American Society of Human Genetics – notice: Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Copyright Cell Press Nov 6, 2014 – notice: 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics |
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| Snippet | Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and... |
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| SubjectTerms | Animals Base Sequence Cell division Cytogenetic Analysis Cytoskeletal Proteins - genetics Cytoskeleton Facies Frameshift Mutation - genetics Gene Components Genes, Recessive - genetics Genetic disorders Genomics Growth Disorders - genetics Growth Disorders - pathology Humans Intellectual Disability - genetics Intellectual Disability - pathology Italy Male Mice Microcephaly - genetics Microcephaly - pathology Microscopy, Confocal Molecular Sequence Data Mutation Sequence Analysis, DNA Syndactyly - genetics Syndactyly - pathology |
| Title | Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome |
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