Mutations in ZBTB20 cause Primrose syndrome
Copyright policy )Mutations in ZBTB20 cause Primrose syndrome
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.
- Sapienza University of Rome Italy
- University of Cincinnati United States
- University System of Ohio United States
- University of Amsterdam Netherlands
- Sarah Network of Rehabilitation Hospitals Brazil
Male, Models, Molecular, Developmental Disabilities, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Cell Line, Intellectual Disability, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Amino Acid Sequence, Ear Diseases, Settore CHIM/02 - CHIMICA FISICA, Base Sequence, Calcinosis, Muscular Atrophy, HEK293 Cells, FINGER PROTEIN ZBTB20; 3 ZINC FINGERS; DNA-BINDING; TRANSCRIPTION; RECOGNITION; OVERGROWTH; AFFINITY; TFIIIA, Female, Chromosomes, Human, Pair 3, Chromosome Deletion
Male, Models, Molecular, Developmental Disabilities, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Cell Line, Intellectual Disability, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Amino Acid Sequence, Ear Diseases, Settore CHIM/02 - CHIMICA FISICA, Base Sequence, Calcinosis, Muscular Atrophy, HEK293 Cells, FINGER PROTEIN ZBTB20; 3 ZINC FINGERS; DNA-BINDING; TRANSCRIPTION; RECOGNITION; OVERGROWTH; AFFINITY; TFIIIA, Female, Chromosomes, Human, Pair 3, Chromosome Deletion
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