Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, add...
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| Published in | American journal of human genetics Vol. 90; no. 4; pp. 628 - 635 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
06.04.2012
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2012.02.019 |
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| Abstract | Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4–8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1–8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families. |
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| AbstractList | Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4–8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1–8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families. Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers ( less than or equal to 8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families. Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families. [PUBLICATION ABSTRACT] Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families.Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families. |
| Author | Scionti, Isabella Govi, Monica Moggio, Maurizio Arashiro, Patricia Vercelli, Liliana Trevisan, Carlo Pietro Angelini, Corrado Ricci, Giulia Siciliano, Gabriele Galluzzi, Giuliana Ruggiero, Lucia Tomelleri, Giuliano Cao, Michelangelo Rodolico, Carmelo Tupler, Rossella Greco, Francesca Berardinelli, Angela Antonini, Giovanni Ricci, Enzo Wright, Woodring Morandi, Lucia Santoro, Lucio Di Muzio, Antonio Zatz, Mayana |
| AuthorAffiliation | 10 Unit of Muscular Pathology and Immunology, Neurological Institute Foundation “Carlo Besta,” Milano 20133, Italy 18 Human Genome Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, Brazil 19 Program in Gene Function and Expression, University of Massachusetts Medical School, Worcester, MA 01605, USA 4 Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin 10126, Italy 6 Department of Neurosciences, University of Padua, Padua 35129, Italy 17 Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA 11 Department of Neurosciences, Università Cattolica Policlinico A. Gemelli, Rome 00168, Italy 1 Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy 2 Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa 56126, Italy 5 Unit of Child Neurology and Psychiatry, IRCCS “C. Modino” F |
| AuthorAffiliation_xml | – name: 8 Center for Neuromuscular Disease, University “G. d'Annunzio,” Chieti 66013, Italy – name: 10 Unit of Muscular Pathology and Immunology, Neurological Institute Foundation “Carlo Besta,” Milano 20133, Italy – name: 1 Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy – name: 4 Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin 10126, Italy – name: 13 Department of Neurological Sciences, University “Federico II,” Naples 80131, Italy – name: 18 Human Genome Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, Brazil – name: 16 Molecular Genetics Laboratory of UILDM, Lazio Section, IRCCS Santa Lucia Foundation, Rome 00179, Italy – name: 19 Program in Gene Function and Expression, University of Massachusetts Medical School, Worcester, MA 01605, USA – name: 7 Department of Neuroscience, Salute Mentale e Organi di Senso, S. Andrea Hospital, University of Rome “Sapienza,” Rome 00189, Italy – name: 5 Unit of Child Neurology and Psychiatry, IRCCS “C. Modino” Foundation, University of Pavia, Pavia 27100, Italy – name: 11 Department of Neurosciences, Università Cattolica Policlinico A. Gemelli, Rome 00168, Italy – name: 2 Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa 56126, Italy – name: 3 Program in Genomics, Division of Genetics, Informatics Program, Children's Hospital, The Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA – name: 14 Department of Neurological Sciences and Vision, University of Verona, Verona 37134, Italy – name: 15 Department of Neurological and Psychiatric Sciences, University of Padua, Padua 35100, Italy – name: 6 Department of Neurosciences, University of Padua, Padua 35129, Italy – name: 9 Neuromuscular Unit, IRCCS Foundation Cà Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan 20122, Italy – name: 17 Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – name: 12 Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina 98125, Italy |
| Author_xml | – sequence: 1 givenname: Isabella surname: Scionti fullname: Scionti, Isabella organization: Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy – sequence: 2 givenname: Francesca surname: Greco fullname: Greco, Francesca organization: Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy – sequence: 3 givenname: Giulia surname: Ricci fullname: Ricci, Giulia organization: Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa 56126, Italy – sequence: 4 givenname: Monica surname: Govi fullname: Govi, Monica organization: Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy – sequence: 5 givenname: Patricia surname: Arashiro fullname: Arashiro, Patricia organization: Program in Genomics, Division of Genetics, Informatics Program, Children's Hospital, The Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA – sequence: 6 givenname: Liliana surname: Vercelli fullname: Vercelli, Liliana organization: Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin 10126, Italy – sequence: 7 givenname: Angela surname: Berardinelli fullname: Berardinelli, Angela organization: Unit of Child Neurology and Psychiatry, IRCCS “C. Modino” Foundation, University of Pavia, Pavia 27100, Italy – sequence: 8 givenname: Corrado surname: Angelini fullname: Angelini, Corrado organization: Department of Neurosciences, University of Padua, Padua 35129, Italy – sequence: 9 givenname: Giovanni surname: Antonini fullname: Antonini, Giovanni organization: Department of Neuroscience, Salute Mentale e Organi di Senso, S. Andrea Hospital, University of Rome “Sapienza,” Rome 00189, Italy – sequence: 10 givenname: Michelangelo surname: Cao fullname: Cao, Michelangelo organization: Department of Neurosciences, University of Padua, Padua 35129, Italy – sequence: 11 givenname: Antonio surname: Di Muzio fullname: Di Muzio, Antonio organization: Center for Neuromuscular Disease, University “G. d'Annunzio,” Chieti 66013, Italy – sequence: 12 givenname: Maurizio surname: Moggio fullname: Moggio, Maurizio organization: Neuromuscular Unit, IRCCS Foundation Cà Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan 20122, Italy – sequence: 13 givenname: Lucia surname: Morandi fullname: Morandi, Lucia organization: Unit of Muscular Pathology and Immunology, Neurological Institute Foundation “Carlo Besta,” Milano 20133, Italy – sequence: 14 givenname: Enzo surname: Ricci fullname: Ricci, Enzo organization: Department of Neurosciences, Università Cattolica Policlinico A. Gemelli, Rome 00168, Italy – sequence: 15 givenname: Carmelo surname: Rodolico fullname: Rodolico, Carmelo organization: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina 98125, Italy – sequence: 16 givenname: Lucia surname: Ruggiero fullname: Ruggiero, Lucia organization: Department of Neurological Sciences, University “Federico II,” Naples 80131, Italy – sequence: 17 givenname: Lucio surname: Santoro fullname: Santoro, Lucio organization: Department of Neurological Sciences, University “Federico II,” Naples 80131, Italy – sequence: 18 givenname: Gabriele surname: Siciliano fullname: Siciliano, Gabriele organization: Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa 56126, Italy – sequence: 19 givenname: Giuliano surname: Tomelleri fullname: Tomelleri, Giuliano organization: Department of Neurological Sciences and Vision, University of Verona, Verona 37134, Italy – sequence: 20 givenname: Carlo Pietro surname: Trevisan fullname: Trevisan, Carlo Pietro organization: Department of Neurological and Psychiatric Sciences, University of Padua, Padua 35100, Italy – sequence: 21 givenname: Giuliana surname: Galluzzi fullname: Galluzzi, Giuliana organization: Molecular Genetics Laboratory of UILDM, Lazio Section, IRCCS Santa Lucia Foundation, Rome 00179, Italy – sequence: 22 givenname: Woodring surname: Wright fullname: Wright, Woodring organization: Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA – sequence: 23 givenname: Mayana surname: Zatz fullname: Zatz, Mayana organization: Human Genome Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, Brazil – sequence: 24 givenname: Rossella surname: Tupler fullname: Tupler, Rossella email: rossella.tupler@umassmed.edu organization: Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25778529$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/22482803$$D View this record in MEDLINE/PubMed |
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| Copyright | 2012 The American Society of Human Genetics 2015 INIST-CNRS Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Apr 6, 2012 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics |
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| Keywords | Human Nervous system diseases Neuromuscular diseases Evaluation scale Genetics Population Diagnosis Muscular dystrophy Genetic disease |
| Language | English |
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| Snippet | Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at... Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers ( less than or equal to 8) of 3.3 kilobase... |
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| SubjectTerms | Adult Aged Biological and medical sciences Biomarkers Brazil - epidemiology chromosome 4 Chromosomes, Human, Pair 4 - genetics Diseases of striated muscles. Neuromuscular diseases DNA Female Fundamental and applied biological sciences. Psychology Gene expression Gene polymorphism General aspects. Genetic counseling Genetic Testing Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Haplotypes - genetics Humans Italy - epidemiology Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Muscular dystrophy Muscular Dystrophy, Facioscapulohumeral - diagnosis Muscular Dystrophy, Facioscapulohumeral - genetics Myopathy Neurology Polymorphism Polymorphism, Genetic Prenatal diagnosis Tandem Repeat Sequences - genetics |
| Title | Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy |
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