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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

Angelman Syndrome
More information here. Summary of genetics of angelman syndrome (2002)online, angelman syndrome Foundation, USA. More information here.
http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/LFourPagesMoreInfo/Ange
Diagnostic Criteria
syndrome Foundation (JHMK, EMW), angelman syndrome Foundation (JEH), Gainesville,Florida; Lee On Solent, Hants (HA), Department of Medical genetics, St.
http://www.angelman.org/diagnostic_criteria.htm

Extractions: Received for publication October 31, 1994. Charles A. Williams, Harry Angelman, Jill Clayton-Smith, Daniel J. Driscoll, Jill E. Hendrickson, Joan H.M. Knoll, R. Ellen Magenis, Albert Schinzel, Joseph Wagstaff, Elaine M. Whidden, and Roberto T. Zori Division of Genetics, Department of Pediatrics, University of Florida College of Medicine (C.A.W., D.J.D., E.M.W., R.T.Z.), Research Advisory Committee, Angelman Syndrome Foundation (J.H.M.K., E.M.W.), Angelman Syndrome Foundation (J.E.H.), Gainesville, Florida; Lee On Solent, Hants (H.A.), Department of Medical Genetics, St. Mary's Hospital, Manchester (J.C.-S.), Great Britain; Division of Genetics, Children's Hospital, Boston, Massachusetts (J.H.M.K., J.W.), Oregon Health Sciences Center, Portland, Oregon (R.E.M.); Institute of Medical Genetics, University of Zurich, Switzerland (A.S.) KEY WORDS: Angelman syndrome, diagnosis, genetic evaluation The Scientific and Research Advisory Committee of the Angelman Syndrome Foundation recently solicited input from scientists involved in the study of Angelman syndrome to establish consensus about the clinical profile and diagnostic criteria of Angelman syndrome. Tables I, II, and III are intended to assist in the evaluation and diagnosis of Angelman syndrome especially for those unfamiliar with this clinical disorder. These criteria are applicable for the three major types of AS: molecular deletions involving the critical region (deletion positive), uniparental disomy (UPD), and non-deletion/non-UPD [Chan et al., 1993].
TwoPgGenetic
Summary of genetics of angelman syndrome. (Information from FactsAbout angelman syndrome Information for Families). For several
http://www.angelman.org/twopgGenetic.htm

Extractions: (Information from Facts About Angelman Syndrome: Information for Families For several decades the chromosome study of AS individuals revealed no abnormalities, but with the development of improved methods a very small deleted area was found in chromosome 15. Molecular methods such as FISH (fluorescence in situ hybridization) now demonstrate a deletion in about 70% of individuals with AS. The deleted area, although extremely small, is actually quite large when viewed at the molecular level. It is believed to be about 4 million base pairs in length, enough to contain many genes. The deleted region on chromosome 15 is known to contain genes that are activated or inactivated depending upon the chromosome's parent of origin (i.e., a gene may be turned on on the chromosome 15 inherited from the mother but off on the chromosome 15 inherited from the father). This parent-specific gene activation is referred to as genetic imprinting. Because the deletions seen in AS only occur on the chromosome 15 inherited from the mother, the gene(s) responsible for AS were predicted to be active only on the maternal chromosome 15. Disruption of genes that are active on the paternally-derived chromosome 15 is now known to cause another developmental disorder termed the Prader-Willi syndrome (PWS). The PWS gene(s) are actually located close to the AS gene, but they are different. Another cause of AS (2-3% of cases) is paternal uniparental disomy (UPD), where the child inherits both copies of chromosome 15 from the father, with no copy inherited from the mother. In this case, there is no deletion or mutation, but the child is still missing the active UBE3A gene because the paternal-derived chromosomes only have brain-inactivated UBE3A genes.
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome - Lucile Packard Ch
angelman syndrome results when a baby inherits both copies PraderWilli syndrome(PWS), on the other hand Consult your physician or genetic counselor for more
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/uniparen.html

Extractions: What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy. What is Angelman syndrome (AS)? People with Angelman syndrome (AS) have mental retardation, severe speech problems, stiff arm movements, and a stiff, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome results when a baby inherits both copies of chromosome #15 from the father (rather than one from the mother and one from the father). What is Prader-Willi syndrome (PWS)?
Development And Neurobiology: Genetics Of Childhood Disorders: XVI. Angelman Syn
I will review the clinical symptoms before turning to a discussion of the geneticbasis for the disorder. Individuals with angelman syndrome (AS) have severe
http://info.med.yale.edu/chldstdy/plomdevelop/genetics/00julgen.htm

Extractions: J Am Acad Child Adolesc Psychiatry,39:7, 931-934 July 2000 Paul J. Lombroso, M.D. The contribution to human diseases of the genetic mechanism called imprinting has been discovered only during the past decade. Imprinting is not consistent with our previous understanding of how genes are expressed. Prior belief was that each gene in a cell had 2 alleles, one on the maternal and the other on the paternal chromosome. When a gene was turned on, both alleles were transcribed equally and functional protein was produced from both chromosomes. For the majority of genes, this is exactly what happens. However, when there is genetic imprinting, just 1 of the 2 alleles is expressed, while the other is silenced or "imprinted." Whether the allele is transcribed or not depends on whether it lies on the chromosome derived from the father or that derived from the mother. Angelman and Prader-Willi syndromes are 2 illnesses that exemplify this mechanism. The molecular basis for Prader-Willi was discussed in the last column. The molecular basis for Angelman will serve as the focus for the present column. I will review the clinical symptoms before turning to a discussion of the genetic basis for the disorder. Individuals with Angelman syndrome (AS) have severe motor and intellectual retardation. They are often hypotonic at birth, develop epilepsy soon thereafter, and rarely develop speech. They have unusual facies characterized by a large mandible and an open-mouthed expression. Additional features include an abnormal gait and puppet-like movements of their limbs. They are often described as "happy" children because of their frequent smiles and laughter. Several additional features include a facility for protruding their tongues, abnormal skin pigmentation, and a characteristic abnormal EEG discharge pattern.
Development And Neurobiology: Genetics Of Childhood Disorders: Genomic Imprintin
ClaytonSmith J, Pembrey ME (1992), angelman syndrome. 15 as a cause of the Prader-Willisyndrome. Squire JA, Weksberg R (1997), Molecular genetics of Beckwith
http://info.med.yale.edu/chldstdy/plomdevelop/genetics/00margen.htm

Extractions: J Am Acad Child Adolesc Psychiatry,39:3, 386-389 March 2000 David B. Everman, M.D., and Suzanne B. Cassidy, M.D. Genomic imprinting refers to a process that distinguishes paternally derived chromosomes from maternally derived chromosomes. Imprinting plays a critical role in gene expression, mammalian development, and human disease. However, the biological requirement for imprinting remains a mystery. In the first 2 columns on the topic, we will review how imprinting was initially identified, present some hypotheses about the mechanisms of imprinting, and speculate on the evolutionary forces maintaining this phenomenon. The subsequent 2 columns will discuss the molecular bases for 2 disorders in which imprinting is involved, namely, Prader-Willi and Angelman syndromes. Genomic imprinting might be considered the exception that proves the rule. Until the late 1980s, Gregor Mendel¹s laws of inheritance were thought to be inviolate. All autosomal genes were believed to be expressed equally, regardless of whether they were inherited from the mother or the father. For most genes, this is true. However, it is now recognized that a small subset of genes are violators of Mendel¹s laws and are expressed differently depending on the parent from whom they are inherited. As a result of this differential methylation, the maternally inherited copy of an imprinted DNA segment differs from the paternally inherited copy. What has recently been discovered is that these differences may also be reflected in differences in gene expression, even though the nucleotide sequences of the 2 segments are identical. The imprinting process leads to an inactivation of either the paternally or maternally inherited copy of some genes within some of the body¹s cells. Genetic mutations that change this pattern and lead to either increased or decreased expression of imprinted genes may upset the normal amounts of proteins that are expressed.
Disease Directory : Neurological Disorders : Movement Disorders : Angelman Syndr
angelman syndrome. angelman syndrome angelman syndrome up. angelmansyndrome / genetics angelman syndrome / genetics. GeneReviews
http://www.diseasedirectory.net/Neurological_Disorders/Movement_Disorders/Angelm

Extractions: Dystonia ... Movement Disorders : Angelman Syndrome An Angels World - Information, links to other sites and personal accounts of living with Angelman syndrome. Includes a research paper on the subject written by the parent of an Angel. Angel Down Under - Australian couple chronicles their experience raising a child with Angelman Syndrome. Mailing list. General information. Angelman Syndrome - Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. Angelman syndrome - What is Angelman Syndrome? Diagnosis of Angelman Syndrome. The diagnosis of AS is usually made by a paediatrician or clinical geneticist and is based on: Angelman Syndrome - Information, mailing list, photo gallery and links. Dutch version also. Angelman Syndrome - Angelman Syndrome information links. Angelman Syndrome - Clinical features of Angelman Syndrome. Angelman syndrome - links to Angelman Syndrome national and international support groups, clinics with genetic counselors and geneticists. Angelman syndrome.
Angelman Links
angelman syndrome Info http//www.specialtylabs.com/testguid/testfils/BK10.HTM.angelman syndrome Genetic Info http//www.usouthal.edu/genetics/angelm.htm.
http://members.optusnet.com.au/~altona/ALinks1.html

Extractions: Angelman Link's Last updated:- Best viewed at 800 x 600 resolution. The Angelman Syndrome Association ( ASA ) of Australia Home Page The Angelman Syndrome Foundation (USA) Home Page and ASF Contacts International Angelman Syndrome (IASO) Information Webpages Angelman Mailing List's [ For AS Families For Professionals Angelman Mailing List FTP Retrieval Personal Home Pages of A.S. Families ... Special Education in Australia The International Angelman Syndrome Organisation ( IASO )
Pathology Molecular Genetics Angelman Syndrome
most cases of angelman syndrome, except those with chromosomal rearrangements, arede novo and have a low risk for future pregnancies. Genetic counseling is
http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Angelman_S

Extractions: Angelman syndrome presents in early childhood with hypotonia followed by motor and intellectual retardation. Affected children are ataxic, epileptic, have absence of speech, and an unusual facies characterized by a large mandible and an open-mouthed expression. Patients demonstrate excessive laughter, an occipital groove, a facility for protruding the tongue, abnormal choroidal pigmentation, and characteristic electroencephalogram (EEG) discharges. This disorder is caused by deletions of chromosome 15q11-q12 (~70% of cases) by uniparental paternal disomy of chromosome 15 (~5%), by mutations in the UBE3A gene (~20%) or by unknown etiology (~5%).
Molecular Genetics
Appointment Associate Professor of Pediatrics Research Interests genetics ofthe Human Neurologic Disorders, angelman syndrome and PraderWilli syndrome
http://www.healthsystem.virginia.edu/internet/mstp/researchareas/moleculargeneti
Angelman Syndrome
syndrome Diagnostic Testing for PraderWilli and angelman syndromes Report of the ASHG/ACMGReport American Society of Human genetics/American College of
http://ibis-birthdefects.org/start/amfact.htm

Extractions: Premier source of information mostly for medical geneticists. " ... name 'happy puppet' syndrome for a condition with features of severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and unusual facies characterized by a large mandible and open-mouthed expression revealing the tongue ... use of the eponym Angelman syndrome because the term 'happy puppet' may appear derisive ..." (April, 1999).
Www.ddhealthinfo.org - Medical Care Information
Penner, Kandace A, et al. 1993. Communication, Cognition, and Social Integrationin the angelman syndrome. American Journal of Medical genetics 46 3439.
http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3154
ACCESS - Autistic Continuum Connections, Education, And Support Site
Amoung Us Collection of angelman syndrome resources, medical and genetics information,personal stories, articles, and daily tips on life with an Angel .
http://www.autistics.org/access/information/genetic/angelman.html

Extractions: Angelman Syndrome is a genetic disorder which causes severe developmental delay, speech impairment, movement or balance disorder, and unusual behaviour (frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hyperactivity; short attention span). A number of other physical, neurological, and behavioural characteristics are frequently seen. Angelman Syndrome shares some characteristics with autism and people with the syndrome may also be diagnosed autistic. Angelman Syndrome (at the Center for the Study of Autism website)
Congenital, Hereditary, And Neonatal Diseases And Abnormalities
angelman syndrome GeneTests (US). Naevoid Basal Cell Carcinoma syndrome - Atlasof genetics Cytogenetics in Oncology and Haematology (FR).
http://www.mic.ki.se/Diseases/C16.html

Extractions: Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [P Murphy] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com
Angelman Syndrome
angelman syndrome Consensus for Diagnostic Criteria. From the AmericanJournal of Medical genetics. Summary of genetics of angelman syndrome.
http://www.margaretkay.com/Angelman_Syndrome.htm

Extractions: Email: MJK@MargaretKay.com There is no standard course of treatment for Angelman syndrome. Physical therapy and adaptive devices may help patients with jerky gait. Early language evaluation and intervention is often recommended. Anticonvulsant medications may be prescribed for epilepsy. What is the prognosis?
Angelman Syndrome
within chromosome 15q1113 and truncating mutatns of E6-AP is identified in patientswith angelman s syndrome. Kishino T et al., Nat. genetics 1977 1570
http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNP2IE02.htm

Extractions: Angelman syndrome NeuroLearn NeuroHelp Neurodevelopmental Disorders Background ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Angelman syndrome is also known as the "Happy puppet syndrome". These patients are euphoric, frequently simile and with paroxysms of laughter. They also have unusual but characteristic posture characterized by flexion at the wrists and elbows when the arms are raised such that they resemble on a string. Clinically the patients have developmental delay and severe mental retardation, ataxia, seizure, hypotonia, postnatally developing microbrachyencephaly, and a characteristic facial appearance with macrostomia and prognathia. Abnormalities in the cerebrum have been revealed by Golgi impregnantation but very few cases have been studied histologically. Physical Features/Clinical: Craniofacial: Midface hypoplasia, a large mouth, deep-set eyes and mandibular prognathism (a promient chin). Macrostomia (large tongue) is present in childhood. Many patients have a depression in the occipital bone near the posterior fontanelle which is palpable as a horizontal groove with prominent occipital condyle bilaterally. Typical posture of the upper limbs: They have unusual but characteristic posture characterized by flexion at the wrists and elbows when the arms are raised such that they resemble on a string.
Prader-Willi Syndrome Hub
PraderWilli and angelman Syndromes Report of the ASHG/ACMG Test and TechnologyTransfer Committee - from American Society of Human genetics/American College
http://www.genomelink.org/pws/

Extractions: Acne Allergy Antibiotics Antioxidants ... Prader-Willi syndrome - by the National Center for Biotechnology Information (NCBI). The Genes Involved in Prader-Willi and Angelman Syndromes Maternal Uniparental Disomy for Chromosome 15 in a Prader-Willi Patient With a Balanced t(3;21) - from the University of Alabama at Birmingham. Prader Willi Syndrome Center - from Baylor College of Medicine, Department of Molecular and Human Genetics. Genetic Testing for Prader-Willi and Angelman Syndromes - by John P. Johnson, MD (MT). Prader-Willi Syndrome from eMedicine - by Ann Scheimann, MD, Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Johns Hopkins Hospital and, Baylor College of Medicine. Prader-Willi Syndrome - by Suzanne B Cassidy, MD; Stuart Schwartz, PhD., Case Western Reserve University.
Angelman's Syndrome (www.whonamedit.com)
Sugimoto, Y. Fukushima, A. Yamaguchi, et al DNA deletion and its parental originin angelman syndrome patients. American Journal of Medical genetics, New York
http://www.whonamedit.com/synd.cfm/225.html

Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. The affected children have a happy disposition and laugh frequently for almost any reason and their movements are jerky like those of a marionette, or puppet. Inheritance is autosomal recessive. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident. Harry Angelman described three cases in 1965 and called them puppet children because of their peculiar gait. He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare and many physicians doubted its existence. The first reports from North America appeared in the early 1980s and within the last years many new reports have appeared.
Ils Sont Aux Anges! - Bibliographie #2
FRYBURG, W. Roy BREG and Valerie LINDGREN, Diagnosis of angelman syndrome in infants,in American Journal of Medical genetics Volume 38, Number 1, pages 5864.
http://membres.lycos.fr/angelman/biblioc3.htm

Extractions: Thematic list : Angelman syndrome in early childhood Bernard DAN, Abstracts for the First National Symposium on Angelman Syndrome organized by the Angelman Foundation Belgium (Brussels, November 29, 1997): Introduction , in European Journal of Paediatric Neurology , Volume 1, Number 4, pages A1-A8. (November 1997) SuEllen TOTH-FEJEL, R. Ellen MAGENIS, Stuart LEFF, Michael G. BROWN, Bonnie COMEGYS, Helen LAWCE, Toby BERRY, David KESNER, Mary Jane WEBB and Susan OLSON, Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics , in American Journal of Medical Genetics , Volume 55, Number 4, pages 444-452 (February 13, 1995)
AAFP Core Educational Guidelines - July 1999 - American Academy Of Family Physic
Basic principles of human and medical genetics Genes and Imprinting (PraderWillisyndrome, angelman s syndrome); Uniparental disomy (Prader-Willi syndrome
http://www.aafp.org/afp/990700ap/core.html

Extractions: This document has been endorsed by the American Academy of Family Physicians and was developed in cooperation with the American College of Medical Genetics, the Association of Professors of Human and Medical Genetics, the Association of Departments of Family Medicine, the Association of Family Practice Residency Directors and the Society of Teachers of Family Medicine. Attitudes The resident should develop attitudes that encompass the following: Recognition of the importance of the family physician, the medical geneticist and the genetics team as collaborators in the evaluation, diagnosis and management of patients referred for genetic consultation. Recognition of the need for sensitivity to the patient's and family's concerns relating to referral for genetic evaluation and diagnosis of a genetic disorder. Recognition of the importance of confidentiality, ethical and legal issues involved in medical genetics. Knowledge Basic principles of human and medical genetics Genes and chromosomes Genogram/pedigree Components Preparation Interpretation Basic Mendelian inheritance patterns (hair/eye color, blood type)

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