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.

• Authors: 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
• Journal: Nature genetics (Nat Genet) Vol. 46 Issue 8 Pg. 815-7 (Aug 2014) ISSN: 1546-1718 [Electronic] United States
• PMID: 25017102 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Nerve Tissue Proteins
• Transcription Factors
• ZBTB20 protein, human

Topics

• Abnormalities, Multiple (genetics)
• Amino Acid Sequence
• Base Sequence
• Calcinosis (genetics)
• Cell Line
• Chromosome Deletion
• Chromosomes, Human, Pair 3
• Developmental Disabilities (genetics)
• Ear Diseases (genetics)
• Female
• Genetic Predisposition to Disease
• HEK293 Cells
• Humans
• Intellectual Disability (genetics)
• Male
• Models, Molecular
• Molecular Sequence Data
• Muscular Atrophy (genetics)
• Mutation, Missense
• Nerve Tissue Proteins (genetics)
• Sequence Homology, Amino Acid
• Transcription Factors (genetics)