FRA12A DIP2B

Repeat ranges reflect affected and unaffected individuals from a cohort study of 70 controls (6-23 repeats), unaffected carriers representing the intermediate alleles (139-206), and affected individuals (273-306)⁴.

Mechanism

LoF

Hypermethylation leading to decreased expression, although unmethylated expansion leads to increased expression^1,5.

Year

2007⁴

Gene Strand

Alleles

Ref. Motif

GGC

Pathogenic (ref.)

GGC

Pathogenic (gene)

CGG

gnomAD

References

Direct supporting references for info on this page.

omim:136630

A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently.

D,Kumar, J W,Clark, C E,Blank, M A,Patton

Clinical genetics · 1986-06-01

pmid:3742859

Heritable fragility at 11q13 and 12q13.

D F,Smeets, J M,Scheres, T W,Hustinx

Clinical genetics · 1985-08-01

pmid:4042396

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Birgitta,Winnepenninckx, Kim,Debacker, Jacqueline,Ramsay, Dominique,Smeets, Arie,Smits, David R,FitzPatrick, R Frank,Kooy

American journal of human genetics · 2006-12-12

pmid:17236128

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Warren A,Cheung, Adam F,Johnson, William J,Rowell, Emily,Farrow, Richard,Hall, Ana SA,Cohen, John C,Means, Tricia,Zion, Daniel M,Portik, Christopher T,Saunders, Boryana,Koseva, Chengpeng,Bi, Tina,Truong, Carl,Schwendinger-Schreck, Byunggil,Yoo, Jeffrey J,Johnston, Margaret,Gibson, Gilad,Evrony, William B,Rizzo, Isabelle,Thiffault, Scott T,Younger, Tom,Curran, Aaron M,Wenger, Elin,Grundberg, Tomi,Pastinen

Cold Spring Harbor Laboratory · 2022-09-15

doi:10.1101/2022.09.12.22279739

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)

Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.

Aleksandra,Mitina, Mahreen,Khan, Robert,Lesurf, Yue,Yin, Worrawat,Engchuan, Omar,Hamdan, Giovanna,Pellecchia, Brett,Trost, Ian,Backstrom, Keyi,Guo, Linda M,Pallotto, Phoenix Hoi,Lam Doong, Zhuozhi,Wang, Thomas,Nalpathamkalam, Bhooma,Thiruvahindrapuram, Tanya,Papaz, Christopher E,Pearson, Jiannis,Ragoussis, Padmaja,Subbarao, Meghan B,Azad, Stuart E,Turvey, Piushkumar,Mandhane, Theo J,Moraes, Elinor,Simons, Stephen W,Scherer, Jane,Lougheed, Tapas,Mondal, John,Smythe, Luis,Altamirano-Diaz, Erwin,Oechslin, Seema,Mital, Ryan K C,Yuen

EBioMedicine · 2024-02-27

pmid:38418263

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

Warren A,Cheung, Adam F,Johnson, William J,Rowell, Emily,Farrow, Richard,Hall, Ana S A,Cohen, John C,Means, Tricia N,Zion, Daniel M,Portik, Christopher T,Saunders, Boryana,Koseva, Chengpeng,Bi, Tina K,Truong, Carl,Schwendinger-Schreck, Byunggil,Yoo, Jeffrey J,Johnston, Margaret,Gibson, Gilad,Evrony, William B,Rizzo, Isabelle,Thiffault, Scott T,Younger, Tom,Curran, Aaron M,Wenger, Elin,Grundberg, Tomi,Pastinen

Nature communications · 2023-05-29

pmid:37248219

Transcriptome and Genome Analysis Uncovers a

Chiara,Folland, Vijay,Ganesh, Ben,Weisburd, Catriona,McLean, Andrew J,Kornberg, Anne,O'Donnell-Luria, Heidi L,Rehm, Igor,Stevanovski, Sanjog R,Chintalaphani, Paul,Kennedy, Ira W,Deveson, Gianina,Ravenscroft

Neurology. Genetics · 2023-03-14

pmid:37090938

Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.

Farah,Qaiser, Tara,Sadoway, Yue,Yin, Quratulain,Zulfiqar Ali, Charlotte M,Nguyen, Natalie,Shum, Ian,Backstrom, Paula T,Marques, Sepideh,Tabarestani, Renato P,Munhoz, Timo,Krings, Christopher E,Pearson, Ryan K C,Yuen, Danielle M,Andrade

Brain communications · 2021-09-14

pmid:34622207