Mutation update for the SATB2 gene.

Adolescent Animals Child Child, Preschool Codon, Terminator Disease Models, Animal Female Gene Rearrangement Genetic Association Studies Humans Male Matrix Attachment Region Binding Proteins / genetics Mutation Mutation, Missense Neurodevelopmental Disorders / genetics Polymorphism, Single Nucleotide Transcription Factors / genetics
SATB2 SATB2-associated syndrome genotype-phenotype correlation pathogenic variants whole exome sequencing

Journal

Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429

Informations de publication

Date de publication:
08 2019
Historique:
received: 04 02 2019
revised: 10 04 2019
accepted: 22 04 2019
pubmed: 26 4 2019
medline: 31 3 2020
entrez: 26 4 2019
Statut: ppublish

Résumé

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.

Identifiants

DOI: 10.1002/humu.23771 PMID: 31021519
pubmed: 31021519
doi: 10.1002/humu.23771
doi:

Substances chimiques

Codon, Terminator 0
Matrix Attachment Region Binding Proteins 0
SATB2 protein, human 0
Transcription Factors 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1013-1029

Informations de copyright

© 2019 Wiley Periodicals, Inc.

Auteurs

Yuri A Zarate (YA)

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

Katherine A Bosanko (KA)

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

Aisling R Caffrey (AR)

Health Outcomes, College of Pharmacy, Department of Pharmacy Practice, University of Rhode Island, Kingston, Rhode Island.

Jonathan A Bernstein (JA)

Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

Donna M Martin (DM)

Departments of Pediatrics and Human Genetics, The University of Michigan, Ann Arbor, Michigan.

Marc S Williams (MS)

Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.

Elizabeth M Berry-Kravis (EM)

Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois.

Paul R Mark (PR)

Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan.

Melanie A Manning (MA)

Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, California.

Vikas Bhambhani (V)

Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota.

Marcelo Vargas (M)

Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota.

Andrea H Seeley (AH)

Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.

Juvianee I Estrada-Veras (JI)

Murtha Cancer Center Research Program, The Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc, Bethesda, Maryland.
Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
Pediatric subspecialty-Medical Genetics Service, Walter Reed National Military Medical Center, Bethesda, Maryland.

Marieke F van Dooren (MF)

Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Maria Schwab (M)

Genetics Division, Joseph Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey.

Adeline Vanderver (A)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Daniela Melis (D)

Department of Translational Medical Science, Section of Pediatrics, Federico II University, Naples, Italy.

Adnan Alsadah (A)

Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.

Laurie Sadler (L)

Division of Genetics, Oishei Children's Hospital, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, Buffalo, New York.

Hilde Van Esch (H)

Department of Human Genetics, University Hospitals Leuven, KU, Leuven, Belgium.

Bert Callewaert (B)

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Ann Oostra (A)

Department of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium.

Jane Maclean (J)

Pediatric Neurology, Palo Alto Medical Foundation, San Jose, California.

Maria Lisa Dentici (ML)

Medical Genetics, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Valeria Orlando (V)

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Mark Lipson (M)

Department of Genetics, Kaiser Permanente, Sacramento, California.

Steven P Sparagana (SP)

Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas, Texas.

Timothy J Maarup (TJ)

Department of Genetics, Kaiser Permanente, Los Angeles, California.

Suzanne Im Alsters (SI)

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Ariel Brautbar (A)

Department of Genetics, Cook Chldren's Medical Center, Fort Worth, Texas.

Eliana Kovitch (E)

PANDA Neurology, Atlanta, Georgia.

Sakkubai Naidu (S)

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.

Melissa Lees (M)

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

Douglas M Smith (DM)

Minnesota Epilepsy Group, Saint Paul, Minnesota.

Lesley Turner (L)

Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland, Canada.

Víctor Raggio (V)

Departamento de Genética, Facultad de Medicina, Montevideo, Uruguay.

Lucía Spangenberg (L)

Unidad de Bioinformática, Institut Pasteur, Montevideo, Uruguay.

Sixto Garcia-Miñaúr (S)

Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain.

Elizabeth R Roeder (ER)

Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Rebecca O Littlejohn (RO)

Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Dorothy Grange (D)

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medcine, St Louis, Missouri.

Jean Pfotenhauer (J)

Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

Marilyn C Jones (MC)

Division of Genetics, Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California.

Meena Balasubramanian (M)

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.

Antonio Martinez-Monseny (A)

Genetics and Molecular Medicine Department, Rare Disease Pediatric Unit, Hospital Sant Joan de Déu, Barcelona, Spain.

Lot Snijders Blok (LS)

Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.
Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.

Ralitza Gavrilova (R)

Departments of Neurology and Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

Jennifer L Fish (JL)

Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Mutation update for the SATB2 gene.
questionsmedicales.fr › Eucaryotes › Animaux › Mutation update for the SATB2 gene.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Mutation update for the SATB2 gene.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Mutation update for the SATB2 gene.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Codon › Codon stop › Mutation update for the SATB2 gene.
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Mutation update for the SATB2 gene.
questionsmedicales.fr › Phénomènes génétiques › Réarrangement des gènes › Mutation update for the SATB2 gene.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Mutation update for the SATB2 gene.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mutation update for the SATB2 gene.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéines de liaison aux séquences d'ADN MAR › Mutation update for the SATB2 gene.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation update for the SATB2 gene.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Mutation update for the SATB2 gene.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Mutation update for the SATB2 gene.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Mutation update for the SATB2 gene.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Mutation update for the SATB2 gene.