We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Mutations in ZBTB20 cause Primrose syndrome.
- Authors
Cordeddu, Viviana; Redeker, Bert; Stellacci, Emilia; Jongejan, Aldo; Fragale, Alessandra; Bradley, Ted E J; Anselmi, Massimiliano; Ciolfi, Andrea; Cecchetti, Serena; Muto, Valentina; Bernardini, Laura; Azage, Meron; Carvalho, Daniel R; Espay, Alberto J; Male, Alison; Molin, Anna-Maja; Posmyk, Renata; Battisti, Carla; Casertano, Alberto; Melis, Daniela
- 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.
- Subjects
GENETIC disorders; GENETIC mutation; GENETIC regulation; MEDICAL genetics; TALL stature; MENTAL illness genetics; FACIAL abnormalities; GENETICS
- Publication
Nature Genetics, 2014, Vol 46, Issue 8, p815
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.3035