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 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

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 genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Sarah,Fazal, Harriet,Dashnow, Maike F,Dohrn, Jacquelyn,Raposo, Laurel,Hiatt, Matt C,Danzi, Isaac R L,Xu, Camilo,Toro, David R,Adams, Karen,Usdin, Bruce,Hayward, Shilpa Nadimpalli,Kobren, Shamil R,Sunyaev, Rebecca C,Spillmann, Vandana,Shashi, Adriana,Rebelo, Guney,Bademci, Mustafa,Tekin, Aaron R,Quinlan, Stephan,Züchner

Genetics in medicine : official journal of the American College of Medical Genetics · 2025-05-22

pmid:40417743

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in

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

medRxiv : the preprint server for health sciences · 2023-12-12

pmid:37205357