PROJECT

Angelman SYNDROME
austria | baguilod | siccion | tabing | tanglao CLIENT

Group name: k-men DATE

NOVEMBER 27, 2012

KAT LUZON V28 LBYMATB

Human Genetics
study of inheritance as it occur in human beings Phenotype - observed physical and functional traits Genotype - complete set of genes and alleles

Allele - different versions of homologous genes

Genetic Disorders
illness caused by abnormalities in genes or chromosomes Mutations - defined as permanent change in the DNA

Chromosome Mutation - structural changes within the chromosome

Genome Mutation - loss or gain of whole chromosomes Gene Mutation - alterations at the level of the gene

Angelman Syndrome
A complex genetic disorder that affects the nervous system
It is related to chromosome 15

Affects an estimated 1 in 12,000 to 20,000 people

In most cases, this disorder is not inherited

Phenotype
Physical Differences
Laughter and Happiness Gait and Movement Disorders

Mental Retardation
Seizures and EEG Abnormalities Sleep Disorders Feeding Problems and Oral-Motor Behaviors Hypopigmentation and Ocular Albinism

Genotype and Type of Mutation

Deletion of 15q11-13
Result of Paternal Uniparental Disomy (Two parental 15s. No maternal 15.)

Failure to reset the parental imprint during gametogenesis (non-deletion or nonparental disomy)

Image of human karyotype

angelman syndrome

Mutation at DNA Level

Angelman Syndrome is caused by the lack of function of one specific gene called UBE3A

Causes
A MISSING OR DEFECTIVE GENE Normally for people with Angelman Syndrome, only the maternal copy of the maternal chromosome 15, which contains this gene, is missing or damaged.

Preventions
No prevention nor treatment

Conclusion
Angelman Syndrome is a genetic disorder wherein the person affected exhibits developmental delays, lack or minimal speech, inability to move, walk or balance well, trembling movement of the arms and legs, frequent smiling and laughter and happy and excitable personality. This is caused by a deletion, disomy, non-deletion or non-disomy in Chromosome 15 affecting the gene UBE3A

References
http://www.medicinenet.com/angelman_syndrome/ article.htm http://istituti.unicatt.it/genetica_medica_claytonsmith.pdf https://www.orpha.net/data/patho/GB/ukAngelman.pdf http://www.cureangelman.org/FASTFaqs/Genetics 101.pdf