FXS FMR1
Disease ID
FXS, FXTAS, POF1
Gene ID
FMR1
Updated
Feb 5, 2025
v2.2.1
v2.2.1
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.
4
FMR1 Disorders
Jessica Ezzell,Hunter, Elizabeth,Berry-Kravis, Heather,Hipp, Peter K.,Todd
GeneReviews® · 1993-01-01
genereviews:NBK13845
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:291000848
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)