Locus JBS CBL

70% of individuals have 11 repeats⁴, but pathogenic expansion can span hundreds of motifs⁵. The CGG repeat expansion can lead to a fragile site and subsequent deletion of 11q (shown in 2 cases) but total causality is unclear; intermediate alleles are associated with a premutation².

Mechanism

Hypermethylation

DNA hypermethylation/11q deletion in sporadic cases⁶.

Detection

Year

1995⁴

Location in Gene

5' UTR

Gene Strand

Alleles

Ref. Motif

CGG

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CGG

Pathogenic (gene)

CGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interruption (gene)

–

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0007838

Jacobsen syndrome.

Teresa,Mattina, Concetta Simona,Perrotta, Paul,Grossfeld

Orphanet journal of rare diseases · 2009-03-07

pmid:19267933

3omim:147791

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

C,Jones, L,Penny, T,Mattina, S,Yu, E,Baker, L,Voullaire, W Y,Langdon, G R,Sutherland, R I,Richards, A,Tunnacliffe

Nature · 1995-07-13

pmid:7603564

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.

C,Jones, R,Müllenbach, P,Grossfeld, R,Auer, R,Favier, K,Chien, M,James, A,Tunnacliffe, F,Cotter

Human molecular genetics · 2000-05-01

pmid:10767345

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

pmid:38467784

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)

CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.

Caitlin N,Harrington, Emily,Kohl, Zainab,Gilitwala, Joyce,Teng, Dawn H,Siegel, Gregory W,Charville, Robert J,Steffner, David A,Stevenson

American journal of medical genetics. Part A · 2026-04-10

pmid:41964119

Genome-wide identification of TaCIPK gene family members in wheat and their roles in host response to Blumeria graminis f. sp. tritici infection.

Xiaoying,Liu, Xueqing,Wang, Chenxiao,Yang, Guangyu,Wang, Baoli,Fan, Yuntao,Shang, Chen,Dang, Chaojie,Xie, Zhenying,Wang

International journal of biological macromolecules · 2023-07-06

pmid:37422244

A high occurrence of acquisition and/or expansion of C-CBL mutant clones in the progression of high-risk myelodysplastic syndrome to acute myeloid leukemia.

Hsiao-Wen,Kao, Masashi,Sanada, Der-Cherng,Liang, Chang-Liang,Lai, En-Hui,Lee, Ming-Chung,Kuo, Tung-Liang,Lin, Yu-Shu,Shih, Jin-Hou,Wu, Chein-Fuang,Huang, Seishi,Ogawa, Lee-Yung,Shih

Neoplasia (New York, N.Y.) · 2011-11-01

pmid:22131879

Expansion of functionally anergic CD21-/low marginal zone-like B cell clones in hepatitis C virus infection-related autoimmunity.

Benjamin,Terrier, Florence,Joly, Thomas,Vazquez, Philippe,Benech, Michelle,Rosenzwajg, Wassila,Carpentier, Marlène,Garrido, Pascale,Ghillani-Dalbin, David,Klatzmann, Patrice,Cacoub, David,Saadoun

Journal of immunology (Baltimore, Md. : 1950) · 2011-11-14

pmid:22084433

The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly.

Allan M,Gurtan, Patricia,Stuckert, Alan D,D'Andrea

The Journal of biological chemistry · 2006-02-10

pmid:16474167