Mutations in ZBTB20 cause Primrose syndrome

Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035.

Viviana Cordeddu ¹, Bert Redeker ², Emilia Stellacci ³, Aldo Jongejan ⁴, Alessandra Fragale ⁵, Ted E J Bradley ⁶, Massimiliano Anselmi ⁷, Andrea Ciolfi ³, Serena Cecchetti ⁸, Valentina Muto ³, Laura Bernardini ⁹, Meron Azage ¹⁰, Daniel R Carvalho ¹¹, Alberto J Espay ¹², Alison Male ¹³, Anna-Maja Molin ¹⁴, Renata Posmyk ¹⁵, Carla Battisti ¹⁶, Alberto Casertano ¹⁷, Daniela Melis ¹⁷, Antoine van Kampen ⁴, Frank Baas ⁶, Marcel M Mannens ¹⁸, Gianfranco Bocchinfuso ⁷, Lorenzo Stella ⁷, Marco Tartaglia ¹, Raoul C Hennekam ¹⁹

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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