41. FMR1 And The Fragile X Syndrome:  HuGE Factsheet fact sheet FMR1 and the fragile x syndrome Dana C. Crawford zbn9@cdc.gov HuGEReview FMR1 and the fragile x syndrome human genome epidemiology review. http://www.cdc.gov/genomics/hugenet/factsheets/FS_FragileX.htm

fact sheet FMR1 and the Fragile X Syndrome Dana C. Crawford zbn9@cdc.gov HuGE Review Published July, 2001 Gene The fragile X mental retardation-1 ( ) gene, located at Xq27.3, codes for the mRNA-binding fragile X mental retardation protein (FMRP). FMRP is thought to shuttle select mRNAs between the cytosol and nucleus and is highly expressed in the brain, testes, ovaries, esophageal epithelium, thymus, eye, and spleen. Prevalence of Gene Variants For premutations (61-200 repeats), the estimates for Caucasian females range from 1 in 246 to 1 in 468 in the general population. To date, the smallest premutation to hyperexpand to the full mutation in a single generation is 59 repeats. If the threshold for premutations were lowered to 55-200 repeats, the prevalence among Caucasian females can be as high as 1 in 116, depending on the population studied. For Caucasian males, the prevalence of the premutation (61-200 repeats) is probably between 1 in 1,000 to 1 in 2,000 in the general population. No estimates exist for other racial/ethnic groups. Disease Burden The fragile X syndrome is the most common form of inherited mental retardation and accounts for approximately 40% of cases with X-linked mental retardation. Other characteristics of the fragile X syndrome include a wide range of cognitive, behavioral, and physical features such as variable IQ (profound to mild mental retardation), autistic-like features, hyperactivity, increased testicular volume, macrocephaly, and large ears. Females are less severely affected, presumably because of X-inactivation. In the United States, a child with the fragile X syndrome is eligible for early intervention and special education services. A screening study in a U.S. public special education population suggests that approximately 1 in 400 males receiving special education services are affected by the fragile X syndrome.

42. Delayed Diagnosis Of Fragile X Syndrome --- United States, 1990--1999 Delayed Diagnosis of fragile x syndrome United States, 19901999. FMR1and the fragile x syndrome human genome epidemiology review. http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5133a3.htm

Delayed Diagnosis of Fragile X Syndrome - United States, 19901999 Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, affecting approximately 50,000 persons in the United States ( ). FXS occurs when a mutation on the X chromosome is passed from mother to child. Preliminary data suggest that children affected by FXS experience a delay in diagnosis, a pattern common to other single-gene disorders ( ). The molecular test used to definitively diagnose FXS became available in 1991. The first indication of FXS within a family is usually the diagnosis of FXS in a child. Although no proven treatments exist for FXS, prompt diagnosis enables children to receive early intervention services and families to receive genetic counseling ( ). To assess the timing of a diagnosis of FXS in an affected child and genetic counseling for the family, the Frank Porter Graham Child Development Institute (University of North Carolina at Chapel Hill) conducted a survey during AugustOctober 2001 of 140 parents whose first child affected by FXS was born and had the condition diagnosed during 19901999. This report summarizes the results of that survey, which indicate that approximately half of the families did not learn the diagnosis for more than a year after first concerns about their child's development or behavior, and half reported having subsequent pregnancies before FXS was diagnosed in their first child. These findings emphasize the importance of increased opportunities for early diagnosis so children and families can receive all possible benefits, including genetic counseling and intervention services.

43. The Contact A Family Directory - FRAGILE X SYNDROME printer friendly, fragile x syndrome, However these are rarely obvious in affectedindividuals. 1030% of people with fragile x syndrome develop epilepsy. http://www.cafamily.org.uk/Direct/f33.html

printer friendly FRAGILE X SYNDROME home more about us in your area conditions information ... how you can help search this site Fragile X is the most common identifiable form of inherited learning disability . It has a prevalence of about 1 in 4,000 males and 1 in 8,000 females. The cause is an abnormality just above the tip of the X chromosome's long arm, which may be passed from one generation to the next. Intellectual disability varies from mild to severe. Girls and women who have a fragile X chromosome are often of normal intelligence. However up to a third have learning problems which are usually mild or moderate but can occasionally be severe. Other problems experienced by affected individuals include delayed and distorted speech and language development. There can be difficulties with the social use of language, with continuing speech anomalies, repetitive behaviour, attention deficits and overactivity, and autistic-like features, such as poor eye contact, hand flapping, social anxiety, abnormal shyness and an insistence on routine. Physical features ascribed to fragile X syndrome include a relatively large head, a long face with prominent ears, largish jaw and double-jointedness. However these are rarely obvious in affected individuals. 10-30% of people with fragile X syndrome develop

44. Newly Developed Tool Aids Study Of Fragile X Syndrome strands of messenger RNA that bind to a specific protein has lifted a layer of mysteryinvolving a common symptom of fragile x syndrome, report scientists from http://www.eurekalert.org/pub_releases/2003-02/uoia-ndt020603.php

Public release date: 6-Feb-2003 Contact: Jim Barlow b-james3@uiuc.edu University of Illinois at Urbana-Champaign Newly developed tool aids study of Fragile X syndrome CHAMPAIGN, Ill. A newly developed tool that allows researchers to study strands of messenger RNA that bind to a specific protein has lifted a layer of mystery involving a common symptom of Fragile X syndrome, report scientists from four institutions, including the University of Illinois at Urbana-Champaign. The new tool, called Antibody Positioned RNA Amplification (APRA), was created in the lab of James Eberwine, a professor in the department of pharmacology at the University of Pennsylvania School of Medicine. It allows for a detailed analysis in intact cells in this case, neurons of mRNA (messenger ribonucleic acid), which is essential for the transportation of genetic information from DNA to protein-producing areas. APRA was created to study mRNA molecules involved with the Fragile X Mental Retardation Protein (FMRP), which when missing leads to Fragile X syndrome, the most common form of inherited mental retardation, especially in males. APRA and the mRNA-protein interactions it unveiled are detailed in the Feb. 6 issue of the journal Neuron. Intense interest has focused on FMRP since Illinois researchers William T. Greenough and I.J. Weiler of the Beckman Institute for Advanced Science and Technology, co-authors on the Neuron paper, first reported in 1997 that the Fragile X protein is synthesized at synapses, the connections through which nerve cells communicate.

45. The Fragile X Syndrome Protein As RNA Distribution Hub The fragile x syndrome protein as RNA distribution hub. fragile x syndrome is themost common inherited cause of mental retardation in both men and women. http://www.eurekalert.org/pub_releases/2003-02/uopm-tfx020503.php

Public release date: 5-Feb-2003 Contact: Greg Lester lesterg@uphs.upenn.edu University of Pennsylvania Medical Center The Fragile X syndrome protein as RNA distribution hub New technique tracks RNAs associated with the protein responsible for Fragile X (Philadelphia, PA) – The process of turning genes into protein makes the insides of cells terribly crowded and complicated places. Signals tell machinery to transcribe the DNA of genes into messenger RNA (mRNA) whose translation into protein has to be coordinated with everything else that is happening within the cell. Fortunately, there are RNA binding proteins to organize mRNAs. These proteins are so critical that the loss of one particular RNA binding protein, FMRP, leads to Fragile X syndrome, the most common inherited forms of mental retardation. Researchers based at the University of Pennsylvania School of Medicine invented a technique called Antibody Positioned RNA Amplification (APRA) to determine the identity of RNA molecules associated with RNA binding proteins. Their findings on FMRP, presented in the February 6th issue of the journal Neuron, further define the complex basis of Fragile X syndrome. Fragile X syndrome is the most common inherited cause of mental retardation in both men and women. The disorder causes mental abnormalities that range from slight learning disabilities to severe mental retardation. The syndrome is caused by a mutation in what has been termed the Fragile X mental retardation-1 (Fmr1) gene, which encodes FMRP, the Fragile X mental retardation protein.

46. HealthlinkUSA Fragile X Syndrome Links Thursday February 6, 2003. The healthy way to search today's best sites.Links to websites which may include treatment, cures, diagnosis http://www.healthlinkusa.com/Fragile_X_Syndrome.htm

47. HealthlinkUSA Fragile X Syndrome Links part of the treatment process. FindWhat. Click here for page 1 offragile x syndrome information from the HealthlinkUSA directory. http://www.healthlinkusa.com/118ent.htm

48. Fragile X Syndrome Research fragile x syndrome Research. What is fragile x syndrome? What is the typical courseof behavioral and cognitive development in children with fragile x syndrome? http://www-cap.stanford.edu/research/syndromes_disorders/fragilex/

Fragile X Syndrome Research What is fragile X syndrome? Fragile X (fraX) syndrome is a common hereditary cause of mental retardation and learning disability. Both males and females can be affected by fragile X syndrome, although females often have milder effects. Males with Fragile X syndrome usually have mental retardation, and may have some autistic-like behaviors. Females with fragile X syndrome may have mental retardation or learning disabilities, social difficulties, and anxiety. What causes fragile X? Fragile X is caused by mutations of a gene called the FMR1 gene. These gene mutations can affect the development of specific regions of the brain and make a person more susceptible to developing cognitive and behavioral difficulties. Individuals with the full mutation of the gene have fragile X syndrome, while individuals with the premutation of the gene usually are not affected. Individuals with the premutation, however, are at risk for having a child with the full mutation and fragile X syndrome. The figure above shows the most common fragile X mutation- an expansion of extra DNA within a specific component of the FMR1 gene. In the premutation, the expansion is relatively small, however, in the full mutation the expansion is quite large and is usually accompanied by abnormal methylation. The presence of abnormal methylation leads to decreased production or absence of the FMR1 gene's protein product, called FMRP. The specific function of FMRP in the human brain is not yet known although it may be involved in the regulation of proteins produced by other genes.

49. Publications - Fragile X Syndrome fragile x syndrome. Kaufmann WE. Abrams MT. Chen W. Reiss AL. Genotype, molecularphenotype, and cognitive phenotype correlations in fragile x syndrome. http://www-cap.stanford.edu/pubs/fragilex.html

Fragile X Syndrome Kaufmann WE. Abrams MT. Chen W. Reiss AL. Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. American Journal of Medical Genetics. 83(4):286-95, 1999 Apr 2 Abrams MT. Kaufmann WE. Rousseau F. Oostra BA. Wolozin B. Taylor CV. Lishaa N. Morel ML. Hoogeveen A. Reiss AL. FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. American Journal of Medical Genetics. 82(1):25-30, 1999 Jan 1. Mostofsky SH. Mazzocco MM. Aakalu G. Warsofsky IS. Denckla MB. Reiss AL. Decreased cerebellar posterior vermis size in fragile X syndrome: correlation with neurocognitive performance. Neurology. 50(1):121-30, 1998 Jan. Kates WR, Abrams MT, Kaufmann WE, Breiter SN and Reiss AL: MRI volumetric measurement of the amygdala and hippocampus in fragile X syndrome. Psychiatry Research: Neuroimaging 75: 31-48, 1997. Reiss AL. Abrams MT. Singer HS. Ross JL. Denckla MB. Brain development, gender and IQ in children. A volumetric imaging study. Brain. 119 ( Pt 5):1763-74, 1996 Oct. Reiss AL. Freund LS. Baumgardner TL. Abrams MT. Denckla MB. Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nature Genetics. 11(3):331-4, 1995 Nov.

50. Fragile X Syndrome fragile x syndrome research index site with links for disability users, 1000'sof search engines and with live java games, chat's, kids internet, irc, jobs http://www.ability.org.uk/fragile.html

Our Aims Services Stats ... Z Fragile X Syndrome FRAXA Research Foundation - a single gene disorder and the inherited cause of mental retardation. a national nonprofit, parent-run foundation, funds medical research aimed at treatment. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

51. Fragile X Syndrome - DrGreene.com AZ Guide fragile x syndrome. Introduction fragile x syndrome is themost common cause of mental retardation in boys. What is it? http://www.drgreene.com/21_1096.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep DrGreene.com Topic Centers Mission Reviews Awards Readers Comments Press Room Partners and Supporters Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide DrGreene´s Chats FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Children's Health Fertility Fragile X Syndrome Also known as: Martin-Bell syndrome, Marker X syndrome, Cluttering Introduction: Fragile X syndrome is the most common cause of mental retardation in boys. What is it? Fragile X syndrome is a condition caused by a fragile area on the X chromosome. This section of the chromosomes contains ‘repeats’ in the genetic code. Higher numbers of repeats is associated with more severe forms of the disease.

52. Fragile X Syndrome fragile x syndrome is caused in the vast majority of cases by expansions at a (CGG)nrepeat sequence in the promoter region of the FMR1 gene 1-3 . Expansion http://cmgs.org/BPG/Guidelines/1st_ed/fx.htm

Workshops 1992, 1996 Guidelines prepared by David Barton Fragile X syndrome is caused in the vast majority of cases by expansions at a (CGG)n repeat sequence in the promoter region of the FMR-1 gene . Expansion of the array above about 200 repeats, accompanied by methylation of the adjacent CpG island, extinguishes expression of the gene. Deletions and point mutations in the FMR-1 coding sequence have also been reported to cause the syndrome . CGG repeat alleles in the 55-200 range are unstable at meiosis and are referred to as premutations. The basis of the most commonly used diagnostic test is sizing of the repeat array by Southern blotting. This is often combined with methylation analysis by restriction enzyme digestion with a methylation-sensitive enzyme. The term "Fragile X syndrome" is commonly used to refer to the syndrome caused by (CGG)n expansions and other lesions in the FMR-1 gene - the FRAXA locus. However, it is now clear that a small number of families which would cytogenetically have been classed as Fragile X have expansions at the nearby FRAXE locus, which also contains an unstable (CGG)n repeat . This repeat can be analysed by PCR as described below. Southern blot analysis Detecting full expansions The most commonly used enzymes are EcoRI and HindIII, which give normal fragments of approximately 5.1kb. Several equivalent probes are used, particularly Ox1.913 and StB12.314.

53. Fragile X Syndrome fragile x syndrome (aka MartinBell Syndrome, FRAX) is an X-linked syndrome of mentalreatrdation associated in a proportion of cases with dysmorphic features http://cmgs.org/BPG/Guidelines/2nd_ed/fragile_x_syndrome.htm

Workshops 1992, 1996 Guidelines prepared by David Barton . First draft of this edition, 1 May 1998 IMPORTANT NOTICE: THESE GUIDELINES ARE AT A DRAFT STAGE. THEY ARE POSTED HERE FOR COMMENTS, CORRECTIONS AND AMENDMENTS, AND SHOULD NOT BE USED TO GUIDE LABORATORY PRACTICE UNTIL FORMALLY PUBLISHED. 1. NOMENCLATURE AND GENE ID Locus FRAXA Gene FMR-1 OMIM # GeneCard Fragile X 2. DESCRIPTION OF THE DISEASE: Fragile X syndrome (a.k.a. Martin-Bell Syndrome, FRAX) is an X-linked syndrome of mental reatrdation associated in a proportion of cases with dysmorphic features including large everted ears, coarse facies, elongated face and macro-orchidism. Behavioural disturbances including hyperactivity or autistic-like behaviour may be present. Females can also be affected. Approximately one third of female carriers of full mutations will have mild to moderate mental retardation. Most recent publications on the prevalance of FRAX estimate that the disease affects approximately 1 in 5,000 males. 3. THE GENE

54. Woodbine House Special Needs Books in Down Syn Video. fragile x syndrome. Children with fragile x syndromeThe first book for parents on raising children with fragile http://www.woodbinehouse.com/fragilex.Fragile_X_Syndrome.0.htm

Advanced Search Join Our Mailing List Autism Celiac Disease ... Video Fragile X Syndrome Children with Fragile X Syndrome The first book for parents on raising children with fragile X syndrome, a genetic cause of mental retardation, believed to be one of the most common developmental disabilities. Price: Book Details

55. Children With Fragile X Syndrome The first book for parents on raising children with fragile x syndrome, a geneticcause of mental retardation, believed to be one of the most common http://www.woodbinehouse.com/synopsis.asp_Q_product_id_E_0-933149-77-8

56. Fragile X Syndrome fragile x syndrome X-linked Mental Retardation and Macroorchidism Special ResourcesSOS Ask experts or consultants for information fragile x syndrome. http://ibis-birthdefects.org/start/frafact.htm

Tips for printing Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Titles and Fragile X Syndrome FRAXA FRAXD FRAXE FRAXF Fragil X Syndromet [Swedish] Fra X syndrom [German] Marker X syndrome Martin Bell syndrome Sindrome Martin Bell Sindrome X Fragil [Spanish] Sindrome X Fragile [Italian] X Fragile site Folic Acid type X-linked Mental Retardation and macroorchidism X-linked Mental Retardation associated with marXq28 Special Resources Fragile X Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [German] [Italian] [Portuguese] [Spanish] [Swedish] [*][P] Fragile X Syndrome GeneClinics by J Tarleton and RA Saul. " ... characterized by moderate mental retardation in affected males and mild mental retardation in affected females ... all mothers of a child with an FMR1 gene full mutation (expansions >230 trinucletide repeats) are known to be carries of an FMR1 gene expandsion. They and their family members are at increased risk to have children with fragile X syndrome and should be offered DNA-based testing and recurrence risk counseling based on the results. This counseling is extremely complex and should be provided by a knowledgeable genetic professional. Prenatal testing is possible though analysis ... should only be undertaken after carrier status has been ... (1998)."

57. Hikaruchan.com: Writings: Essays: Fragile X Syndrome essays. life. main writings essays fragile x syndrome. 20 February 2001. FragileX syndrome is a genetic disorder also known as MartinBell syndrome. http://www.hikaruchan.com/writings/fragx.html

hikaruchan.com art. fiction. essays. life. main writings essays : fragile x syndrome 20 February 2001 Fragile X syndrome is a genetic disorder also known as Martin-Bell syndrome. It is one of the most common forms of inherited mental retardation. This disorder is an inherited genetic condition associated with mental retardation, especially autism. Fragile X Syndrome is identified by a break or weak spot on the long arm of the X chromosome. Since the disorder is passed down through an abnormality in a sex chromosome, it is described as a sex-linked trait. Fragile X syndrome is inherited by having a parent who is a carrier of the disorder. Carriers are not affected by the disorder, but their offspring can be. Males who are affected by Fragile X always have a mother that is a carrier. A higher amount of repeated CGG sequences in a carrier female increases the risk of having a child with Fragile X. This only occurs with a carrier female, however; it has no effect with carrier males. Carrier males pass the gene on to their daughters but not their sons. The inheritance patterns of Fragile X are highly complex, making the disorder essentially different from case to case. This disorder affects one in two thousand males and one in four thousand females. It is not partial to race or ethnicity. It is estimated that about one in 259 women are carriers of Fragile X. It is believed that one in eight hundred men carry the disorder. In general, about one in six hundred people are carriers. Fragile X is thought to be responsible for up to ten percent of cases of mental retardation. It is also the most common mutation in the human genome that causes mental disabilities.

58. Gbr05 fragile x syndrome. This report is in Adobe PDF (Portable Document Format)and can be downloaded here fragile x syndrome. To download http://www.thearc.org/depts/gbr05.html

Fragile X Syndrome This report is in Adobe PDF (Portable Document Format) and can be downloaded here: Fragile X Syndrome To download this document, you need Adobe's Acrobat Reader, free software that lets you download, read and print documents in their original, layed-out format regardless of the computer platform you use or software you have loaded. You can read about and download this software here: Adobe Acrobat Reader for Windows Adobe Acrobat Reader for Macs Return to The Arc's Human Genome page. Return to The Arc's Welcome Page

59. EMedicine - Fragile X Syndrome : Article By Jennifer Jewell, MD fragile x syndrome fragile x syndrome, also termed Martin-Bell syndrome or markerX syndrome, is the most common cause of inherited mental retardation and http://www.emedicine.com/PED/topic800.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Fragile X Syndrome Last Updated: March 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: marker X syndrome, Martin-Bell syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Jennifer Jewell, MD , Pediatric Hospitalist, Clinical Instructor of Pediatrics, Department of Pediatrics, Barbara Bush Children's Hospital at Maine Medical Center Jennifer Jewell, MD, is a member of the following medical societies: American Academy of Pediatrics American Medical Association Massachusetts Medical Society , and Sigma Xi Editor(s): Michael Fasullo, PhD , Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; David Flannery, MD, FAAP, FACMG

60. FRAGILE X SYNDROME Pediatric Database (PEDBASE); Discipline GEN; Last Updated 1/02/95 FRAGILE XSYNDROME. DEFINITION Disorder Trinucleotide Repeat. fragile x syndrome - CGG. http://www.icondata.com/health/pedbase/files/FRAGILEX.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 1/02/95 FRAGILE X SYNDROME DEFINITION: An inherited disorder characterized by mental retardation, macro-orchidism, and a fragile X chromosome site on cytogenetic analysis. EPIDEMIOLOGY: prevalence: 1:1,250 males and 1:2,500 females age of onset: risk factors: familial - fits neither dominant or recessive X-linked inheritance patterns (carrier frequency for females: 1:500) chrom.#: Xq27.3 gene: Fragile X Mental Retardation-1 (FMR-1) gene M:F (1:0.7) PATHOGENESIS: 1. Background the Fragile X Syndrome belongs to a growing family of disorders where the genetic mutation involves unstable trinucleotide repeats (C_G): Disorder - Trinucleotide Repeat Fragile X Syndrome - CGG Myotonic Dystrophy - CTG Huntington Disease - CAG Kennedy's Disease - CAG Spinocerebellar Ataxia-I - CAG Machado-Joseph Disease - CAG in this family of disorders, the number of repeats tends to increase with succeeding generations ("genetic anticipation")

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