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NA07078 DNA from LCL

Description:

NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
MARKER CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

20 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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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
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX,21ps+
Species Homo sapiens
Common Name Human
Remarks Clinically affected; birth weight 5 lbs 6 oz; microcephaly and poor growth noted in first 3 months of life; short stature; developmental delay; hypogammaglobulinemia diagnosed at age 6; at age 18 height was 129 cm, weight was 22.6 kg and, head circumference was 42 cm; birdlike facies with a prominent beaked nose and recessed chin; low-set ears; hypoplasia of dental enamel; tympanic membranes appeared scarred; small tonsils; no cervical lymphoid tissue palpable; bilateral rales on chest exam; severe immunodeficiency; lymphopenic with decreases in both B and T cell numbers; proliferative responses to mitogens were poor; serum IgG 120 mg/dL; IgM 20 mg/dL; IgA undetectable; high incidence of chromosome breakage; T cells show breakage at fragile sites on chromosomes 7 and 14; donor subject is homozygous for a deletion of 5 nucleotides in exon 6 of the NBS1 gene, resulting in a frameshift and a premature termination at codon 218 [657-661delACAAA (657del5)]; mother is GM08037; father is GM08036; see GM07166 fibroblast cell line.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
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.

Phenotypic Data

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Remarks Clinically affected; birth weight 5 lbs 6 oz; microcephaly and poor growth noted in first 3 months of life; short stature; developmental delay; hypogammaglobulinemia diagnosed at age 6; at age 18 height was 129 cm, weight was 22.6 kg and, head circumference was 42 cm; birdlike facies with a prominent beaked nose and recessed chin; low-set ears; hypoplasia of dental enamel; tympanic membranes appeared scarred; small tonsils; no cervical lymphoid tissue palpable; bilateral rales on chest exam; severe immunodeficiency; lymphopenic with decreases in both B and T cell numbers; proliferative responses to mitogens were poor; serum IgG 120 mg/dL; IgM 20 mg/dL; IgA undetectable; high incidence of chromosome breakage; T cells show breakage at fragile sites on chromosomes 7 and 14; donor subject is homozygous for a deletion of 5 nucleotides in exon 6 of the NBS1 gene, resulting in a frameshift and a premature termination at codon 218 [657-661delACAAA (657del5)]; mother is GM08037; father is GM08036; see GM07166 fibroblast cell line.

Publications

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Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S, Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions Human molecular genetics: 2008
PubMed ID: 18558631
 
Ho CC, Siu WY, Lau A, Chan WM, Arooz T, Poon RY, Stalled replication induces p53 accumulation through distinct mechanisms from DNA damage checkpoint pathways Cancer research66:2233-41 2006
PubMed ID: 16489026
 
Alt JR, Bouska A, Fernandez MR, Cerny RL, Xiao H, Eischen CM, Mdm2 binds to Nbs1 at sites of DNA damage and regulates double strand break repair. J Biol Chem280(19):18771-81 2005
PubMed ID: 15734743
 
Marcelain K, De La Torre C, González P, Pincheira J, Roles of nibrin and AtM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage Biological research38:179-85 2005
PubMed ID: 16238096
 
Buscemi G, Perego P, Carenini N, Nakanishi M, Chessa L, Chen J, Khanna K, Delia D, Activation of ATM and Chk2 kinases in relation to the amount of DNA strand breaks Oncogene23:7691-700 2004
PubMed ID: 15361830
 
Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L, MRE11 mutations and impaired ATM-dependent responses in an Italian family with Ataxia-Telangiectasia Like Disorder (ATLD). Hum Mol GenetEpub ahead of print:7691-700 2004
PubMed ID: 15269180
 
Buscemi G, Savio C, Zannini L, Micciche F, Masnada D, Nakanishi M, Tauchi H, Komatsu K, Mizutani S, Khanna K, Chen P, Concannon P, Chessa L, Delia D, Chk2 activation dependence on Nbs1 after DNA damage. Mol Cell Biol21(15):5214-22 2001
PubMed ID: 11438675
 
Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays L, Morgan WF, Petrini JH, The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell93(3):477-86 1998
PubMed ID: 9590181
 
Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW, A chromosomal breakage syndrome with profound immunodeficiency. Blood67:1251-6 1986
PubMed ID: 2421804
 
Spinner, Immunodeficiency, microcephaly, and chromosome instability with multiple 7,14 rearrangements. Am J Hum Genet37:A118 (1985):1251-6 1985
PubMed ID: 2421804

External Links

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dbSNP dbSNP ID: 21784
Gene Cards NBN
NBS1
Gene Ontology GO:0000075 cell cycle checkpoint
GO:0003684 damaged DNA binding
GO:0005634 nucleus
GO:0006302 double-strand break repair
NCBI Gene Gene ID:4683
NCBI GTR 251260 NIJMEGEN BREAKAGE SYNDROME; NBS
602667 NIBRIN; NBN
OMIM 251260 NIJMEGEN BREAKAGE SYNDROME; NBS
602667 NIBRIN; NBN
Omim Description ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1
  IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
  MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULARMALIGNANCIES
  NBS
  NIJMEGEN BREAKAGE SYNDROME
  NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
  SEEMANOVA SYNDROME II

Images

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View karyotype 
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International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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