Description:
NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| 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 |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
POLISH
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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. |
| |
| Gene |
NBS1 |
| Chromosomal Location |
8q21 |
| Allelic Variant 2 |
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 |
Clinically affected; birth weight 2600 grams; birth length 51 cm; head circumference at birth 31 cm; microcephaly; characteristic craniofacial features including receding forehead, prominent midface, receding mandible, upslanting palpebral fissures, and large ears with dysplastic helices; stunted growth; vitiligo; mental retardation; no severe infections; increased chromosome breaks with 32.7% of cells showing structural abnormality; IgG1, IgG2, and IgG4 deficiency; decreased IgA concentration; moderately decreased IgM level; homozygous for del of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in a premature termination at codon 218 [657-661delACAAA (657del5)]; affected brother is GM15812; mother is GM15810; father is GM15811; unaffected sister is GM15813. |
| 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 |
| |
| 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 |
|
|