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Angelman Syndrome Genetics:     more detail

Angelman syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS, CGC Roggenbuck, 2005 Chromosomal abnormalities: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle, MS, CGC Bosworth, 2005 Prader-Willi Syndrome: and Other Chromosome 15q Deletion Disorders (NATO ASI Series / Cell Biology)

lists with details

61. Department Of Medical Genetics
    OF MEDICAL genetics. UNIVERSITY OF CALGARY. MOLECULAR DIAGNOSTIC LABORATORY. ALBERTACHILDREN'S HOSPITAL. PWS, AS, PraderWilli syndrome, angelman syndrome.  
    http://www.ucalgary.ca/UofC/faculties/medicine/medgenetics/m-i-pws.htm
    
    Extractions: Our current standard protocol The SNRPN probe following XbaI/EagI double digestion detects a methylation sensitive EagI site in the Prader Willi/Angelman Chromosomal Region. The maternal chromosome is normally methylated, cannot be cut with EagI, and yields a 4.2 kb maternal band. The paternal chromosome is normally unmethylated and can be cut with EagI to yield a 0.9 kb paternal band. Normal individuals will have both bands present at equal intensity. Almost all PWS individuals show only the 4.2 kb (methylated) band, and approximately 75% of AS individuals show only the 0.9 kb (unmethylated band). This test will not necessarily indicate the reason for the variant methylation patterns observed. Further tests if the above does not provide sufficient information Short tandem repeat (STR) markers from the critical region can be used to look for transmission of parental alleles to the child. This approach cannot easily distinguish between microdeletions or uniparental homodisomy/isodisomy (but FISH might) but may permit the differentiation between either of those and uniparental heterodisomy. We currently use the D15S11, D15S113 and GABRB3 STR markers for this purpose. Possible future developments (Angelman syndrome point mutations) The recent discovery of point mutations in the UBE3A (E6-AP) gene in some patients with Angelman syndrome will permit the characterization of some AS patients who escape detection by the above tests (the 25% of AS patients who have no deletion, UPD, or imprinting anomaly). Sequencing protocols may be developed.

62. Genetics, John F. Kennedy Center For Research On Human Development, Vanderbilt U
    This project is a continuation of research to delineate the genetics of Alzheimer andmutational analysis of the UBE3A gene in angelman syndrome (funded by  
    http://www.vanderbilt.edu/kennedy/topics/genetics.html
    
    Extractions: David Lubinski Camilla Benbow co-principal investigators , Vanderbilt site (R. Plomin, PI) General cognitive ability ("g") is one of the most heritable behavioral traits. This study is a continuation of the first project attempting to identify some of the specific genes (quantitative trait loci, or QTLs) responsible for this heritability. The study uses an allelic association strategy with extreme selected groups in order to achieve the statistical power needed to identify QTLs of small effect size. Identifying QTLs will carve out handholds in the climb towards understanding neurophysiological pathways between genes and cognitive development. More immediately, QTL associations will greatly increase our ability to investigate the interplay between genes and environment in cognitive development. A collaborative linkage study of autism (National Institute of Mental Health, 1996-1999)

63. Entrez-PubMed
    q13 during gametogenesis. MeSH Terms angelman syndrome/genetics*;Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 15*;  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

64. Angelman Syndrome
    of human genes and disorders Information angelman syndrome Foundation, USA providesinformation, education and support GeneClinics a medical genetics resource.  
    http://www.ncbi.nlm.nih.gov/disease/angelman.html
    
    Extractions: ANGELMAN SYNDROME (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor which includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the 'happy puppet' syndrome. The genetic basis of AS is very complex, but the majority of cases are due to a deletion of segment 15q11-q13 on the maternally derived chromosome 15. When this same region is missing from the paternally derived chromosome, an entirely different disorder, Prader-Willi syndrome, results. This phenomenon - when the expression of genetic material depends on whether it has been inherited from the mother or the father - is termed genomic imprinting.

65. MARK TERRY
    the characteristics and mechanisms that cause two genetic syndromes PraderWillisyndrome and angelman syndrome. Traditional Mendelian genetics involves the  
    http://www.mark-terry.com/adv12.htm
    
    Extractions: MARK TERRY NON-MENDELIAN GENETICS: A TALE OF TWO SYNDROMES by Mark Terry In the two previous columns I’ve discussed some of the characteristics and mechanisms that cause two genetic syndromes: Prader-Willi Syndrome and Angelman Syndrome. Traditional Mendelian genetics involves the transmission of traits from parents to children. Each trait, gene or genetic loci is located on a single chromosome. One chromosome is inherited from the mother and the other is inherited from the father. Prader-Willi and Angelman Syndromes are both usually caused by deletions in the q11 to q13 band region of chromosome 15. However, a complicated Non-Mendelian molecular action referred to as methylation can cause genes to be turned on or off. So when the maternally inherited chromosome 15 is deleted, the child has Angelman Syndrome; when the paternally inherited chromosome 15 is deleted, the child has Prader-Willi Syndrome. That’s what happens when one chromosome is inherited from the mother and one chromosome is inherited from the father. But what happens when both chromosomes of a pair are inherited from one of the parents and none are inherited from the other?

66. MARK TERRY
    the next two will address the complex genetics of imprinting and uniparental disomyby examining two syndromes PraderWilli syndrome and angelman syndrome.  
    http://www.mark-terry.com/adv10.htm
    
    Extractions: MARK TERRY NON-MENDELIAN GENETICS: A TALE OF TWO SYNDROMES Part 1: Prader-Willi and Angelman Syndromes by Mark Terry Today’s column and the next two will address the complex genetics of imprinting and uniparental disomy by examining two syndromes: Prader-Willi Syndrome and Angelman Syndrome. First I want to remind you of a few basic factskeep them in mind because we’ll be discussing their exceptions. First, as Gregor Mendel explained in the mid-1800s, traits are inherited and may have two loci, one of which may be dominant (expressed) and one of which may be recessive (not expressed). Second, in human beings, DNA comes packaged in 23 pairs of chromosomes. Under ordinary circumstances we receive one copy of each pair from our mom and one copy from our dad. Third, at the basic level, a gene will be on both inherited chromosome pairs and will be dominant and/or recessive. Keeping those basic facts of genetics in mind, let’s take a look at two complex syndromes. Prader-Willi Syndrome Prader-Willi Syndrome, or PWS, is typically associated with a deletion of chromosome 15 in the q11 to q13 banding region. It occurs in about 1 in 12,000 to 15,000 people and does not differentiate between sex or race. Neonates and infants display hypotonia, which improves with age. They generally exhibit feeding problems and poor weight gain as infants, which is replaced between age one and six with excessive and/or rapid weight gain leading to obesity, unless there is intervention. This weight gain is the result of one of the more eccentric traits of PWS, which is an obsession with food, and "foraging" behavior. Families with older PWS patients have been forced to padlock their pantries and refrigerators to keep the children from compulsive eating. Some older PWS patients report eating out of Dumpsters because of their compulsion.

67. Molecular Program
    Genzyme genetics Molecular Diagnostic Laboratory angelman syndrome (uniparentaldisomy and methylation), Bcell clonality, Bcl-2, bcr-abl, Bloom syndrome  
    http://healthcare.partners.org/humangenetics/hms/molecular.html
    
    Extractions: Molecular Genetics The Harvard Medical School Genetics Training Program is accredited by the American Board of Medical Genetics to provide training in Clinical Molecular Genetics. Participating laboratories are at Children's Hospital, Massachusetts General Hospital, Brigham and Women's Hospital and Genzyme Genetics. The overall goals of the molecular genetics program are: understand the principles of molecular genetics as applied to diagnostic testing, including direct mutation analysis and linkage analysis become familiar with major techniques used in clinical molecular genetics, including PCR, Southern analysis, DNA sequencing, electrophoresis, and other technologies learn the major clinical indications for molecular testing and the clinical implications of test results learn to calculate genetic risks and integrate molecular and clinical data develop skills in communicating with referring physicians become familiar with clinical disorders amenable to molecular testing appreciate the issues in quality assurance necessary to management of a diagnostic laboratory become sensitive to ethical issues in genetics, particularly those raised by molecular diagnostic testing

68. Genome Research Tracks Down Bad Genes 06/98
    which specific brain regions express the angelman syndrome gene. the causes of thesyndrome and forecasting for experimental uses, and welldefined genetics.  
    http://www.pnl.gov/er_news/06_98/art2.htm
    
    Extractions: This issue... ER Briefly Inside ER A Proton Shaped Like Elvis? Bad Genes Working Science People E-mail Reminder by Kathy Blanchard Gene discoveries this year offer hope for understanding the fundamental causes of two genetic conditions that, in humans, stem from chromosomes 19 and 15: congenital nephrotic syndrome and Angelman syndrome. These discoveries were made possible by advances in the U.S. Human Genome Project, launched a decade ago by ER's Office of Biological and Environmental Research and the National Institutes of Health. The goal of the Human Genome Project is to identify the estimated 70,000 to 100,000 human genes and construct maps of entire chromosomes. Genome research will ultimately reveal the complete ordering of the components that make up DNA, the heredity blueprint. The Human Genome Center at Lawrence Livermore National Laboratory has mapped most of chromosome 19 and has sequenced, or ordered, the base pairs for about 6.2 million of the chromosome's 65 million bases. (Base pairs are combinations of proteins and enzymes that form the building blocks of DNA.) Using the genetic map of chromosome 19, scientists at Livermore and in Sweden (Karolinska Institute, Stockholm) and Finland (University of Oulu, Oulu) collaborated to locate the gene that causes congenital nephrotic syndrome, a deadly kidney disease. Congenital nephrotic syndrome, which is most prevalent in Finland, causes massive amounts of protein to be excreted from the body and usually leads to death by age 2. Scientists at the Human Genome Center used their detailed chromosome 19 map to locate many of the genetic markers used by the European researchers to analyze families with the disease. Eventually, through additional family studies and identification of more genetic markers, the search for the disease gene was narrowed to a region of about one million base pairs and finally to 150,000 base pairs. The European researchers then found and began analyzing 11 possible genes that could be responsible for the disease.

69. MEDLINEplus: Genetic Disorders
    About angelman syndrome (angelman syndrome Foundation); About Fragile X syndrome(National Institute for Biotechnology Information); genetics and Neuromuscular  
    http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
    
    Extractions: Gene-Environment Interaction Fact Sheet (National Center for Environmental Health) Genes and Birth Defects: Common Forms of Inheritance (March of Dimes Birth Defects Foundation) Late-Appearing Defects (March of Dimes Birth Defects Foundation) Multifactorial Inheritance (March of Dimes Birth Defects Foundation) Clinical Trials

70. U.Va. Researchers Trace Two Childhood Diseases To Specific
    Allis, Harry Flood Byrd Professor of Biochemistry and Molecular genetics at U asthe seizures and sleep disturbances that occur in angelman syndrome can be  
    http://hsc.virginia.edu/newstips/Archives00/wagstaff-study.html

71. Chapter 1: Links | Course Companion For Children With Disabilities, Fifth Editio
    Chromosome Translocations.” Information for families. “genetics 101of angelman syndrome.” Definitions and a discussion of inheritance.  
    http://textbooks.brookespublishing.com/batshaw/chapters/01/links.htm
    
    Extractions: 1: Chromosomes and Heredity 2: Birth Defects 3: Growth Before Birth 4: Having a Baby 5: The First Weeks of Life 6: Premature and Small-for-Dates Infants 7: Substance Abuse 8: HIV Infection in Children 9: Nutrition 10: Vision 11: Hearing 12: Communication 13: The Brain and Nervous System 14: Muscles, Bones, and Nerves 15: Mental Retardation 16: Down Syndrome 17: Fragile X Syndrome 18: PKU 19: Dual Diagnosis 20: Pervasive Developmental Disorders 21: Attention Deficits and Hyperactivity 22: Specific Learning Disabilities 23: Cerebral Palsy 24: Neural Tube Defects 25: Epilepsy 26: Traumatic Brain Injury 27: Feeding 28: Dental Care 29: Early Intervention 30: Special Education Services 31: Promoting Adaptive Behavior 32: Technological Assistance 33: Rehabilitation 34: Exercise, Sports, and Recreation 35: Ethical Dilemmas 36: Providing Family-Centered Services 37: Future Expectations 38: Health Care and Finance 1: Chromosomes and Heredity: A Toss of the Dice

72. Ils Sont Aux Anges! - Les Dernières Nouvelles
    Translate this page Susan MALCOLM, Counselling dilemmas associated with the molecular characterisationof two angelman syndrome families, in Journal of Medical genetics, Volume 34  
    http://membres.lycos.fr/angelman/1nouvel.htm

73. Pick Up From Where Dan’s Genetics Explanation Leaves Off…
    The Pathogenesis of angelman syndrome Journal Article Summary. In1997, Sutcliffe et al. narrowed down the region implicated in  
    http://www.haverford.edu/psych/biopsych217b/Angelman/Pathogenesis.htm
    
    Extractions: The Pathogenesis of Angelman Syndrome: Journal Article Summary In 1997, Sutcliffe et al. narrowed down the region implicated in AS to a250 kb region which contains the entire transcriptional unit of theE6-AP ubiquitin-protein . The gene of interest in AS has been identified as UBE3A, so named because it encodes a protein called E6-AP ubiquitin protein ligase. UBE3A functions as part of the ubiquitin proteasome pathway responsible for protein degradation.It was first discovered from research on human papilloma virus, and appears to promote the degradation of p53 (an oncoprotein) in association with theE6 protein. E6-AP is a member of the E3 family of ligases, so grouped for their ability to bind ubiquitin, and facilitate its transfer to a protein targeted for degradation. Degradation of proteins is a normal and crucial aspect of cellular processing; normal ubiquitin function is vital for the regulation of the cell cycle, transcription, and synaptic plasticity, among other processes. In normal cases, the child inherits both copies of UBE3A, but only the mother’s copy is active. Individuals with Angelman syndrome lack a working copy ofUE3A; the resulting phenotype of the disease results from this genetic deficiency. Sutcliffe et al. established that the entire UBE3A gene lies within the stretch previously identified as the affected region in Angelman Syndrome. As of now, researchers have only identified two proteins known to be degradation targets of E6-AP, p53 and HHR23A, though others may and probably do exist.

74. AS Links
    Angels Among Us Very comprehensive resource The Communication Skills of Childrenwith AS The genetics of angelman syndrome Very Interesting Informative!  
    http://www.coastwebdesigns.com/asa/html/body_as_links.html

75. Congenital, Hereditary, And Neonatal Diseases And Abnormalities
    Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal Database of Chromosomal Abnormalities Southeastern Regional genetics Group (US Pallister-Killiansyndrome (Tetrasomy 12p). angelman syndrome angelman syndrome  
    http://www.mic.ki.se/Diseases/c16.html

76. RS Vs Angelman Syndrome - From Sep 97 To Apr 98
    Subj angelman syndrome. Date 9709-14 050346 EDT. Dear Rettnetters,. Just toclarify that the genetics of angelmans syndrome is fairly complicated and not yet  
    http://www.rettsyndrome.org/digests/00028.htm
    
    Extractions: RS vs Angelman Syndrome [from Sep 97] Subj: Angelman Syndrome Date: 97-09-12 00:28:20 EDT Hi Rettneters - …she asked me if anyone had ever suggested Angelman Syndrome as a diagnosis for Stefanie. I've heard of it, vaguely, and did some internet research this afternoon on it, and evidently it's a syndrome that is easily confused with Rett Syndrome so that girls could be misdiagnosed. Evidently, there's a test for it - most of the kids have a deletion on chromosome 15, so I guess we'll have the test done (a blood test), but I was just wondering if any of you had received Angelman's as a possible diagnosis for your daughter. Stefanie doesn't really totally fit the criteria for Angelman's (although she also doesn't totally fit the criteria for Rett's either, hence the "atypical" label), so I'm curious. Maybe IRSA/Kathy Hunter could help clarify for me here, too. Thanks in advance - we've already had her diagnosed with ataxic CP and had to deal with the new diagnosis of Rett's 3 years ago, so I feel like here we go again...

77. Tab005mgu: Genetics Of Some Mendelian Disorders That Have Epilepsy As Part Of Th
    Table 5. genetics of some Mendelian disorders that have epilepsy as part of theirphenotype (tab005mgu angelman syndrome Imprinting (loss of maternal information  
    http://www-ermm.cbcu.cam.ac.uk/99001398h.htm

78. Angelman Syndrome
    Information about angelman syndrome from the University of Washington, Seattle.Category Health Conditions and Diseases angelman syndrome ultrasound measurements. Molecular genetics. Table 3. Molecular geneticsof angelman syndrome. Gene, Locus, Product, Genomic Databases.  
    http://www.geneclinics.org/profiles/angelman/details.html
    
    Extractions: 2 April 2002 Disease characteristics. Angelman syndrome (AS) is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly and seizures are common. Diagnosis/testing. Consensus clinical diagnostic criteria for AS have been developed, but the mainstay of diagnosis testing is: 1) analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region, which detects ~78% of patients with AS, including those with a deletion, uniparental disomy, or imprinting defect; and 2) sequence analysis, which detects an additional ~11% of patients. Less than 1% of patients have a cytogenetically visible chromosome rearrangement. The remaining ~11% patients with classic phenotypic features of AS have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. Genetic counseling.

79. Tests Available At The H
    MOLECULAR genetics TESTS. Achondroplasia Alagille syndrome (Jagged 1) angelman syndrome(Methylation) angelman syndrome (UPD) Becker muscular dystrophy Beckwith  
    http://genetics.hillcrest.com/services/lab/mollab/available_tests.asp

80. Angelman Syndrome
    (03) 9564 7511. Things to remember angelman syndrome is a neurological disordercaused by a missing section of chromosome 15. Genes and genetics.  
    http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Angelman_syndrome

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