Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu; Bert Redeker; Emilia Stellacci; Aldo Jongejan; Alessandra Fragale; Ted E. J. Bradley; Massimiliano Anselmi; Andrea Ciolfi; Serena Cecchetti; Valentina Muto; Laura Bernardini; Meron Azage; Daniel R. Carvalho; Alberto J. Espay; Alison Male; Anna-Maja Molin; Renata Posmyk; Carla Battisti; Alberto Casertano; Daniela Melis; Antoine van Kampen; Frank Baas; Marcel M. Mannens; Gianfranco Bocchinfuso; Lorenzo Stella; Marco Tartaglia; Raoul C. Hennekam

doi:https://doi.org/10.1038/ng.3035

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu, Bert Redeker, Emilia Stellacci, Aldo Jongejan, Alessandra Fragale, Ted E. J. Bradley, Massimiliano Anselmi, Andrea Ciolfi, Serena Cecchetti, Valentina Muto, Laura Bernardini, Meron Azage, Daniel R. Carvalho, Alberto J. Espay, Alison Male, Anna-Maja Molin, Renata Posmyk, Carla Battisti, Alberto Casertano, Daniela MelisAntoine van Kampen, Frank Baas, Marcel M. Mannens, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Raoul C. Hennekam

Research output: Contribution to journal › Article › Academic › peer-review

73 Citations (Scopus)

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

Original language	English
Pages (from-to)	815-817
Journal	Nature Genetics
Volume	46
Issue number	8
DOIs	https://doi.org/10.1038/ng.3035
Publication status	Published - 2014

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https://doi.org/10.1038/ng.3035

Cite this

Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., Carvalho, D. R., Espay, A. J., Male, A., Molin, A.-M., Posmyk, R., Battisti, C., Casertano, A., ... Hennekam, R. C. (2014). Mutations in ZBTB20 cause Primrose syndrome. Nature Genetics, 46(8), 815-817. https://doi.org/10.1038/ng.3035

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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",

author = "Viviana Cordeddu and Bert Redeker and Emilia Stellacci and Aldo Jongejan and Alessandra Fragale and Bradley, {Ted E. J.} and Massimiliano Anselmi and Andrea Ciolfi and Serena Cecchetti and Valentina Muto and Laura Bernardini and Meron Azage and Carvalho, {Daniel R.} and Espay, {Alberto J.} and Alison Male and Anna-Maja Molin and Renata Posmyk and Carla Battisti and Alberto Casertano and Daniela Melis and {van Kampen}, Antoine and Frank Baas and Mannens, {Marcel M.} and Gianfranco Bocchinfuso and Lorenzo Stella and Marco Tartaglia and Hennekam, {Raoul C.}",

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Cordeddu, V, Redeker, B, Stellacci, E, Jongejan, A, Fragale, A, Bradley, TEJ, Anselmi, M, Ciolfi, A, Cecchetti, S, Muto, V, Bernardini, L, Azage, M, Carvalho, DR, Espay, AJ, Male, A, Molin, A-M, Posmyk, R, Battisti, C, Casertano, A, Melis, D, van Kampen, A , Baas, F , Mannens, MM, Bocchinfuso, G, Stella, L, Tartaglia, M & Hennekam, RC 2014, 'Mutations in ZBTB20 cause Primrose syndrome', Nature Genetics, vol. 46, no. 8, pp. 815-817. https://doi.org/10.1038/ng.3035

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AU - Cordeddu, Viviana

AU - Redeker, Bert

AU - Stellacci, Emilia

AU - Jongejan, Aldo

AU - Fragale, Alessandra

AU - Bradley, Ted E. J.

AU - Anselmi, Massimiliano

AU - Ciolfi, Andrea

AU - Cecchetti, Serena

AU - Muto, Valentina

AU - Bernardini, Laura

AU - Azage, Meron

AU - Carvalho, Daniel R.

AU - Espay, Alberto J.

AU - Male, Alison

AU - Molin, Anna-Maja

AU - Posmyk, Renata

AU - Battisti, Carla

AU - Casertano, Alberto

AU - Melis, Daniela

AU - van Kampen, Antoine

AU - Baas, Frank

AU - Mannens, Marcel M.

AU - Bocchinfuso, Gianfranco

AU - Stella, Lorenzo

AU - Tartaglia, Marco

AU - Hennekam, Raoul C.

PY - 2014

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