Journal
HUMAN MUTATION
Volume 39, Issue 7, Pages 959-964Publisher
WILEY
DOI: 10.1002/humu.23546
Keywords
3q13.31 microdeletion syndrome; functional analyses; mutation spectrum; Primrose syndrome; ZBTB20
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Funding
- University of Zurich (University of Zurich clinical research priority programradiz)
- Fondazione Bambino Gesu (Vite coraggiose)
- Umberto Veronesi Post-doc fellowship
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Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in a genomic region that is deleted in the 3q13.31 microdeletion syndrome, which explains the clinical overlap between the two disorders. A narrow spectrum of amino acid substitutions in a restricted region of ZBTB20 encompassing the first and second zinc-finger motifs have been reported thus far. Here, we characterize clinically and functionally the first truncating mutation [(c.1024delC; p.(Gln342Serfs*42)] and a missense change affecting the third zinc-finger motif of the protein [(c.1931C>T; p.(Thr644Ile)]. Our data document that both mutations have dominant negative impact on wild-type ZBTB20, providing further evidence of the specific behavior of PS-causing mutations on ZBTB20 function.
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