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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Amino Acid Sequence
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Base Sequence
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Calcinosis / genetics*
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Cell Line
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Chromosome Deletion
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Chromosomes, Human, Pair 3
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Developmental Disabilities / genetics
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Ear Diseases / genetics*
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Female
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Genetic Predisposition to Disease
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HEK293 Cells
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Humans
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Intellectual Disability / genetics*
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Male
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Models, Molecular
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Molecular Sequence Data
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Muscular Atrophy / genetics*
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Mutation, Missense*
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Nerve Tissue Proteins / genetics*
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Sequence Homology, Amino Acid
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Transcription Factors / genetics*
Substances
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Nerve Tissue Proteins
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Transcription Factors
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ZBTB20 protein, human