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 journalArticlepeer-review

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 languageEnglish
Pages (from-to)815-817
Number of pages3
JournalNature Genetics
Volume46
Issue number8
DOIs
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Genetics
  • Medicine(all)

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