Angelman's Syndrome
Affects
Symptoms
Minimal speech
Frequent smile/laughter
Lack of crawling
Balance is off
Nervous System
Gene Affected
Inheritance
UBE3A gene
Cause
Protein
provides instructions to make Ubiquitin Protein Ligase E3A
Segment of maternal chromosome 15 containing gene is deleted
Mutation within gene itself
Protein is made incorrectly
Becomes nonfunctional
Result of genomic imprinting
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
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