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Angelman's Syndrome (Symptoms (Minimal speech, Frequent smile/laughter…
Angelman's Syndrome
Affects
Nervous System
Gene Affected
UBE3A gene
Cause
Segment of maternal chromosome 15 containing gene is deleted
Result of genomic imprinting
Mutation within gene itself
Protein is made incorrectly
Becomes nonfunctional
Protein
provides instructions to make Ubiquitin Protein Ligase E3A
involved in targeting proteins for degradation within cells
removes damaged & unnecessary proteins to keep normal function of cells
does so by attaching small marker protein to other proteins that should be degraded
Symptoms
Minimal speech
Frequent smile/laughter
Lack of crawling
Balance is off
Inheritance
Genetic Changes
A deletion in maternal chromosome 15
Paternal uniparental disomy
A mutation on the gene can be passed down
2 copies of the gene are inherited
Genomic imprinting
Early embryonic development