Description:
NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| 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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POLISH
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Family Member
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4
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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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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| Gene |
NBS1 |
| Chromosomal Location |
8q21 |
| Allelic Variant 1 |
602667.0001; NIJMEGEN BREAKAGE SYNDROME |
| Identified Mutation |
5-BP DEL, NT657-661; In Nijmegen breakage syndrome (NBS; 251260) patients of
Slavic origin, Varon et al. [Cell 93: 467-476, (1998)] identified a common
deletion of 5 nucleotides in exon 6 of the NBS1 gene, resulting in a
frameshift and a truncated protein. The deletion introduced a premature
termination signal at codon 218, which was predicted to result in a
severely truncated polypeptide. The truncating 5-bp deletion (657del5)
had been identified in 90% of NBS patients. |
| Remarks |
Obligate heterozygote; diabetic; affected children are GM15818 and GM15819; heterozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene which results in a premature termination at codon 218 [657-661delACAAA (657del5)] |
| Arce PM, Goldschmidt R, Khdour OM, Madathil MM, Jaruvangsanti J, Dey S, Fash DM, Armstrong JS, Hecht SM, Analysis of the structural and mechanistic factors in antioxidants that preserve mitochondrial function and confer cytoprotection Bioorganic & medicinal chemistry20:5188-201 2012 |
| PubMed ID: 22883028 |
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| Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A, Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell93:467-76 1998 |
| PubMed ID: 9590180 |
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| Saar K, Chrzanowska KH, Stumm M, Jung M, Nurnberg G, Wienker TF, Seemanova E, Wegner RD, Reis A, Sperling K, The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet60:605-10 1997 |
| PubMed ID: 9042920 |
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| Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michalkiewicz J, Stachowski J, Gregorek H, Lyson-Wojciechowska G, et al, Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet57:462-71 1995 |
| PubMed ID: 7545870 |
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