FRA2A AFF3

Allele ranges established in study of 3 families; intermediate alleles likely premutations¹. Pathogenic threshold may be higher than 300 as this was the largest allele that could be accurately sized by the assay.

Mechanism

LoF/methylation

Silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene³.

Year

2014¹

Location in Gene

Intron 3

Gene Strand

Alleles

Ref. Motif

GCC

Pathogenic (ref.)

GCC

Pathogenic (gene)

CGG

References

Direct supporting references for info on this page.

FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Sofie,Metsu, Liesbeth,Rooms, Jacqueline,Rainger, Martin S,Taylor, Hemant,Bengani, David I,Wilson, Chandra Sekhar Reddy,Chilamakuri, Harris,Morrison, Geert,Vandeweyer, Edwin,Reyniers, Evelyn,Douglas, Geoffrey,Thompson, Eric,Haan, Jozef,Gecz, David R,Fitzpatrick, R Frank,Kooy

PLoS genetics · 2014-04-24

pmid:24763282

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in<i>AFF3</i>as a significant cause of intellectual disability

Bharati,Jadhav, Paras,Garg, Joke J. F. A.,van Vugt, Kristina,Ibanez, Delia,Gagliardi, William,Lee, Mariya,Shadrina, Tom,Mokveld, Egor,Dolzhenko, Alejandro,Martin-Trujillo, Scott L.,Gies, Clarissa,Rocca, Mafalda,Barbosa, Miten,Jain, Nayana,Lahiri, Katherine,Lachlan, Henry,Houlden, Benedict,Paten, Jan,Veldink, Arianna,Tucci, Andrew J.,Sharp

Cold Spring Harbor Laboratory · 2023-05-05

doi:10.1101/2023.05.03.23289461

malacard:KNS007

Additional 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)

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Bharati,Jadhav, Paras,Garg, Joke J F A,van Vugt, Kristina,Ibanez, Delia,Gagliardi, William,Lee, Mariya,Shadrina, Tom,Mokveld, Egor,Dolzhenko, Alejandro,Martin-Trujillo, Scott J,Gies, Gabrielle,Altman, Clarissa,Rocca, Mafalda,Barbosa, Miten,Jain, Nayana,Lahiri, Katherine,Lachlan, Henry,Houlden, Benedict,Paten, Jan,Veldink, Arianna,Tucci, Andrew J,Sharp

Nature genetics · 2024-09-23

pmid:39313615