Description:
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
BUB1 MITOTIC CHECKPOINT SERINE/THREONINE KINASE B; BUB1B
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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New Zealander of Northern European descent
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Country of Origin
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NEW ZEALAND
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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arr[hg19] 15q11.1q11.2(20262223-22588019)x1,22q11.21(18672872-19006984)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
BUB1B |
| Chromosomal Location |
15q15 |
| Allelic Variant 1 |
602860.0006; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME |
| Identified Mutation |
4-BP INS, 2211GTTA; In affected members from 2 unrelated families with mosaic variegated aneuploidy syndrome (257300), Hanks et al. (Nat Genet 36:1159-1161, 2004) identified compound heterozygosity for 2 mutations in the BUB1B gene. Both families carried a 4-bp insertion (2211insGTTA), resulting in a frameshift after codon 738 with premature termination at codon 753. In one family the other mutation was R814H (602860.0007) and in the other family it was L1012P (602860.0008). In both families, the parents had premature chromatid separation trait (176430). |
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| Gene |
BUB1B |
| Chromosomal Location |
15q15 |
| Allelic Variant 2 |
602860.0007; MOSAIC VARIEGATED ANEUPLOIDY |
| Identified Mutation |
ARG814HIS; See 602860.0006 and Hanks et al. (Nat Genet 36:1159-1161, 2004). The arg814-to-his (R814H) substitution arose from a 2441G-A transition in the BUB1B gene.
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| Remarks |
Clinically affected with mosaic variegated aneuploidy syndrome; intrauterine growth retardation; microcephaly; eye anomalies; multicystic kidney; donor subject has the following mutations on the BUB1B gene: 221-2insGTTA (protein effect S738fsX753) and 2441G->A (protein effect R814H); 58 percent of cells showed endoreduplication; 30 percent showed hyperdiploid abnormalities, especially chromosomes 8 and 12; mother's karyotype (46,XX) and father's karyotype (46, XY; 1 cell with tetraploidy and endoreduplication); parental cell lines not in the repository. |
| Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Méhes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N., Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet. 2004 Nov;36(11):1159-61. Epub 2004 Oct 10.
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Méhes K, Nash R, Robin N, Shannon N, T36(11):1159-61 2004 |
| PubMed ID: 15475955 |
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