FXS FMR1
Disease ID
FXS, FXTAS, POF1
Gene ID
FMR1
Disease
Name
Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1
Inheritance
X-linked dominant Description
Prevalence
14 100,000
Locus
Details
Alleles
Ref. Motif
CGG
Pathogenic (ref.)
CGG
Pathogenic (gene)
CGG
gnomAD
References
Direct supporting references for info on this page.
5
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Jessica,Hunter, Oliver,Rivero-Arias, Angel,Angelov, Edward,Kim, Iain,Fotheringham, Jose,Leal
American journal of medical genetics. Part A · 2014-04-03
pmid:247006186
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti
American journal of human genetics · 2017-11-02
pmid:291000847
Intellectual and developmental disabilities: a dynamic systems approach
Springer · 2024-01-01
isbn:978-3-031-66932-38
Population-based FMR1 carrier screening among reproductive women.
Quratul,Ain, Ye Hyun,Hwang, Daryl,Yeung, Pacharee,Panpaprai, Wiwat,Iamurairat, Wiboon,Chutimongkonkul, Objoon,Trachoo, Flora,Tassone, Poonnada,Jiraanont
Journal of assisted reproduction and genetics · 2024-09-25
pmid:3932055310
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).
Flora,Tassone, John,Adams, Elizabeth M,Berry-Kravis, Susannah S,Cohen, Alfredo,Brusco, Maureen A,Leehey, Lexin,Li, Randi J,Hagerman, Paul J,Hagerman
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2007-06-05
pmid:1742718811
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
Deborah A,Hall, Sukriti,Nag, Bichun,Ouyang, David A,Bennett, Yuanqing,Liu, Aisha,Ali, Lili,Zhou, Elizabeth,Berry-Kravis
Movement disorders : official journal of the Movement Disorder Society · 2020-05-28
pmid:3246354212
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.
Simon,Ardui, Valerie,Race, Thomy,de Ravel, Hilde,Van Esch, Koenraad,Devriendt, Gert,Matthijs, Joris R,Vermeesch
Frontiers in genetics · 2018-05-16
pmid:2986810813
Diseases of unstable repeat expansion: mechanisms and common principles.
Jennifer R,Gatchel, Huda Y,Zoghbi
Nature reviews. Genetics · 2005-10-01
pmid:1620571414
Clinical and neuroimaging review of triplet repeat diseases.
Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe
Japanese journal of radiology · 2022-09-28
pmid:3616976815
Molecular studies of the fragile X syndrome.
S J,Knight, M C,Hirst, A,Roche, Z,Christodoulou, S M,Huson, R,Winter, M,Fitchett, M J,McKinley, R H,Lindenbaum, Y,Nakahori
American journal of medical genetics
pmid:160519416
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
A J,Verkerk, M,Pieretti, J S,Sutcliffe, Y H,Fu, D P,Kuhl, A,Pizzuti, O,Reiner, S,Richards, M F,Victoria, F P,Zhang
Cell · 1991-05-31
pmid:1710175Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Trinucleotide Repeat Expansion and RNA Dysregulation in Fragile X Syndrome: Emerging Therapeutic Approaches.
Suna,Jung, Joel D,Richter
RNA (New York, N.Y.) · 2024-12-26
pmid:39725461Ascorbic Acid Ameliorates Molecular and Developmental Defects in Human-Induced Pluripotent Stem Cell and Cerebral Organoid Models of Fragile X Syndrome.
Keith M,Gunapala, Aseel,Gadban, Faiza,Noreen, Primo,Schär, Nissim,Benvenisty, Verdon,Taylor
International journal of molecular sciences · 2024-11-26
pmid:39684429Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.
Marta,Casula, Daniela,Marchetti, Lucia,Trevisan, Laura,Pezzoli, Matteo,Bellini, Serena,Patrone, Antonio,Zingarelli, Fabio,Gotta, Maria,Iascone, Paola,Mandich
Frontiers in cardiovascular medicine · 2024-11-25
pmid:39654947Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.
Danuta Z,Loesch, Freddy,Chafota, Minh Q,Bui, Elsdon,Storey, Anna,Atkinson, Nicholas G,Martin, Scott D,Gordon, Miguel E,Rentería, Randi J,Hagerman, Flora,Tassone
Molecular genetics & genomic medicine · 2024-11-01
pmid:39588919Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54b.
Bruce E,Hayward, Geum-Yi,Kim, Carson J,Miller, Cai,McCann, Megan G,Lowery, Richard D,Wood, Karen,Usdin
bioRxiv : the preprint server for biology · 2024-11-06
pmid:39574643Dampened α7 nAChR activity contributes to audiogenic seizures and hyperactivity in a mouse model of Fragile X Syndrome.
Sarah,Goebel, Dylann,Cordova-Martinez, Vytas K,Verselis, Anna,Francesconi
bioRxiv : the preprint server for biology · 2024-11-03
pmid:39553953dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection.
Kang,Yang, Yue,Liu, Ji,Zhang, Qian,Yu, Feng,Xu, Jiyuan,Liu, Yuting,Li, Xiaojie,Zhang, Zhiqiang,Wang, Ning,Wang, Yuezhen,Li, Yan,Shi, Wan-Jin,Chen
Clinical chemistry · 2024-11-04
pmid:39492694Prevalence and implications of fragile X premutation screening in Thailand.
Areerat,Hnoonual, Sunita,Kaewfai, Chanin,Limwongse, Pornprot,Limprasert
Scientific reports · 2024-11-01
pmid:39482338Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.
Jordan E,Norris, Elizabeth M,Berry-Kravis, Mark D,Harnett, Scott A,Reines, Melody A,Reese, Abigail H,Outterson, Claire,Michalak, Jeremiah,Furman, Mark E,Gurney, Lauren E,Ethridge
Molecular autism · 2024-11-02
pmid:39488698