JBS CBL

Disease ID
JBS
Gene ID
CBL
Clinical Links
GARD
307
MalaCard
JCB001
MedGen
162878
Mondo
0007838
OMIM
147791
Orphanet
2308
Bioinformatical Links
STRipy
CBL
TR-Atlas
TR112816
WebSTR hg38
6166081430025
WebSTR hg19
STR_266122

Disease

Name
Jacobsen syndrome (FRAX11B fragile site)
Inheritance
Autosomal dominant
Description
A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 111 .
Prevalence
1/100,000 births; female/male ratio 2:12 . Found across ancestries/ethnicities3 .
Age of OnsetYears0  0
Age of Onset Details
Condition at birth.

Locus

hg19
chr11:119076999-119077032
hg38
chr11:119206289-119206322
t2t
chr11:119226663-119226696
Details
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 .
Year
19954
Gene Strand

Alleles

Ref. Motif
CGG
Pathogenic (ref.)
CGG
Pathogenic (gene)
CGG
BenignIntermediatePathogenicUnits5  7980  100101  300

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0007838
2
Jacobsen syndrome.
Teresa,Mattina, Concetta Simona,Perrotta, Paul,Grossfeld
Orphanet journal of rare diseases · 2009-03-07
pmid:19267933
3
omim:147791
4
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
5
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
6
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)

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