Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu¹, Bert Redeker², Emilia Stellacci³, Aldo Jongejan⁴, Alessandra Fragale⁵, Ted E J Bradley⁶, Massimiliano Anselmi⁷, Andrea Ciolfi³, Serena Cecchetti⁸, Valentina Muto³, Laura Bernardini⁹, Meron Azage¹⁰, Daniel R Carvalho¹¹, Alberto J Espay¹², Alison Male¹³, Anna-Maja Molin¹⁴, Renata Posmyk¹⁵, Carla Battisti¹⁶, Alberto Casertano¹⁷, Daniela Melis¹⁷, Antoine van Kampen⁴, Frank Baas⁶, Marcel M Mannens¹⁸, Gianfranco Bocchinfuso⁷, Lorenzo Stella⁷, Marco Tartaglia¹, Raoul C Hennekam¹⁹

Affiliations

¹ 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
² 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
³ Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
⁴ Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
⁵ Dipartimento di Malattie Infettive, Parassitarie e Immunomediate, Istituto Superiore di Sanità, Rome, Italy.
⁶ Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
⁷ Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
⁸ Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.
⁹ Laboratorio Mendel, Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
¹⁰ Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
¹¹ Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
¹² Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
¹³ Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
¹⁴ Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
¹⁵ Podlaskie Center of Clinical Genetics, Białystok, Poland.
¹⁶ Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.
¹⁷ Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
¹⁸ Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
¹⁹ 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].

PMID: 25017102
DOI: 10.1038/ng.3035

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu et al. Nat Genet. 2014 Aug.

. 2014 Aug;46(8):815-7.

doi: 10.1038/ng.3035. Epub 2014 Jul 13.

Authors

Affiliations

¹ 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
² 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
³ Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
⁴ Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
⁵ Dipartimento di Malattie Infettive, Parassitarie e Immunomediate, Istituto Superiore di Sanità, Rome, Italy.
⁶ Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
⁷ Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
⁸ Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.
⁹ Laboratorio Mendel, Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
¹⁰ Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
¹¹ Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
¹² Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
¹³ Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
¹⁴ Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
¹⁵ Podlaskie Center of Clinical Genetics, Białystok, Poland.
¹⁶ Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.
¹⁷ Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
¹⁸ Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
¹⁹ 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].

PMID: 25017102
DOI: 10.1038/ng.3035

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.

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References

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Mutations in ZBTB20 cause Primrose syndrome

Affiliations

Mutations in ZBTB20 cause Primrose syndrome

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Abstract

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Medical

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