angelman syndrome

1. Angelman syndrome 15 Feb 2020 By: Malak Arab Molecular diagnosis

2. CONTENTS OF THIS TEMPLATE Here’s what you’ll find in this presentation: • Angelman syndrome ‘s background. • FEATURES OF AS . • Types of mutation. • Techniques used for mutation detection. • Final slides with: • New gene therapy. (20 page) • Happy international day ..

3. 1965 Discovered by: Harry Angelman 1967 Cause of disease was found 15 Feb International Angelman Day • Harry Angelman

4. named HAPPY PUPPET SYNDROME Angelman syndrome

5. Friquence: Affects one in 15,000 individuals

6. * delayed development.* intellectual disability.* severe speech impairment.* problems with movement and balance (ataxia).* Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). ____________________Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. FEATURES OF ASinclude :

7. FEATURES OF AS include : Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual

8. “Angelman syndrome is a complex genetic disorder that primarily affects the nervous system.” Modes of inheritance Autosomal dominant inheritance —SOMEONE FAMOUS

9. Angelman syndrome region

10. Function: This gene encodes the ubiquitin-protein ligase. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome,

11. It’s occurred as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Most cases of Angelman syndrome are not inherited 01 02 03 Inheritance Affected people typically have no history of the disorder in their family.

12. 1- deleation about 70% Most cases of Angelman syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted chromosomal microarray (CMA) can show if portions of chromosomes are missing. Test:

13. 02 UBE3A mutatint UBE3A gene sequencing test to look for a maternal mutation caused by a mutation in the maternal copy of the UBE3A gene. Test:

14. uniparental disomy 03 Parental blood samples must be collected and tested along with the fetal or child’s sample. The PCR assay can be performed on extracted DNA or cell lysates of uncultured CVS, amniotic fluid, or blood specimens In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. Test:

15. The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the disorder in these cases. 04- Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, 05- under the Sub telomeric terminal

18. Moorinformation

19. Gene Therapy  by mending mutations in the brains of foetuses in the womb. The treatment, involve doctors injecting the feotus’s brain with a harmless virus that infects the neurons and delivers a suite of molecules that correct the genetic faults. Zylka’s therapy uses a version of a powerful gene editing tool known as Crispr-Cas9 to switch the father’s copy back on [in mice]. Follow-up work showed that it worked in human brain cells grown in a dish, too. “It really does raise the possibility that this gene therapy might be usable in humans,” [neurobiologist Mark] Zylka said.

20. donate https://www.angelman.org/as-events/

21. Do you have any questions? THANKS