title: Mutations in ZBTB20 cause Primrose syndrome.
abstract: Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.
authors.affiliation: 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
authors.forename: Viviana
authors.initials: V
authors.lastname: Cordeddu
authors.affiliation: 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
authors.forename: Bert
authors.initials: B
authors.lastname: Redeker
authors.affiliation: Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Emilia
authors.initials: E
authors.lastname: Stellacci
authors.affiliation: Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Aldo
authors.initials: A
authors.lastname: Jongejan
authors.affiliation: Dipartimento di Malattie Infettive, Parassitarie e Immunomediate, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Fragale
authors.affiliation: Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Ted E J
authors.initials: TE
authors.lastname: Bradley
authors.affiliation: Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Anselmi
authors.affiliation: Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ciolfi
authors.affiliation: Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Cecchetti
authors.affiliation: Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Muto
authors.affiliation: Laboratorio Mendel, Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.affiliation: Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors.forename: Meron
authors.initials: M
authors.lastname: Azage
authors.affiliation: Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
authors.forename: Daniel R
authors.initials: DR
authors.lastname: Carvalho
authors.affiliation: Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
authors.forename: Alberto J
authors.initials: AJ
authors.lastname: Espay
authors.affiliation: Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
authors.forename: Alison
authors.initials: A
authors.lastname: Male
authors.affiliation: Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
authors.forename: Anna-Maja
authors.initials: AM
authors.lastname: Molin
authors.affiliation: Podlaskie Center of Clinical Genetics, Białystok, Poland.
authors.forename: Renata
authors.initials: R
authors.lastname: Posmyk
authors.affiliation: Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Battisti
authors.affiliation: Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Casertano
authors.affiliation: Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.affiliation: Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Antoine
authors.initials: A
authors.lastname: van Kampen
authors.affiliation: Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.affiliation: Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Marcel M
authors.initials: MM
authors.lastname: Mannens
authors.affiliation: Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Bocchinfuso
authors.affiliation: Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Stella
authors.affiliation: 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.affiliation: 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002114:Calcinosis / Q000235:genetics*; D002460:Cell Line; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002658:Developmental Disabilities / Q000235:genetics; D004427:Ear Diseases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D057809:HEK293 Cells; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009133:Muscular Atrophy / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D014157:Transcription Factors; C427486:ZBTB20 protein, human