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NA16377 DNA from LCL

Description:

BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3

Affected:

Yes

Sex:

Female

Age:

21 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
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 ASHKENAZI
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; B.S. Registry #27; born at term; birth weight = 1,960 grams; at age 2 years: weight = 6.8 kg, height = 74 cm; short stature; learning disabilities; sun sensitive facial telangiectasias; cafe-au-lait spots; high rate of sister chromatid exchange; chromosome breakage; donor subject is homozygous for a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM09960.

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 RECQL3
Chromosomal Location 15q26.1
Allelic Variant 1 604610.0001; BLOOM SYNDROME
Identified Mutation 6-BP DEL/7-BP INS; In 4 ostensibly unrelated persons of Jewish ancestry, Ellis et al. [Cell 83: 655 (1995)] found homozygosity for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the BLM cDNA. Deletion of ATCTGA and insertion of TAGATTC caused the insertion of the novel codons for LDSR after amino acid 736, and after these codons there was a stop codon. Ellis et al. [Cell 83: 655 (1995)] concluded that a person carrying this deletion/insertion mutation was a founder of the Ashkenazi-Jewish population, and that nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation identical by descent from this common ancestor.
 
Gene RECQL3
Chromosomal Location 15q26.1
Allelic Variant 2 604610.0001; BLOOM SYNDROME
Identified Mutation 6-BP DEL/7-BP INS; In 4 ostensibly unrelated persons of Jewish ancestry, Ellis et al. [Cell 83: 655 (1995)] found homozygosity for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the BLM cDNA. Deletion of ATCTGA and insertion of TAGATTC caused the insertion of the novel codons for LDSR after amino acid 736, and after these codons there was a stop codon. Ellis et al. [Cell 83: 655 (1995)] concluded that a person carrying this deletion/insertion mutation was a founder of the Ashkenazi-Jewish population, and that nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation identical by descent from this common ancestor.

Phenotypic Data

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Remarks Clinically affected; B.S. Registry #27; born at term; birth weight = 1,960 grams; at age 2 years: weight = 6.8 kg, height = 74 cm; short stature; learning disabilities; sun sensitive facial telangiectasias; cafe-au-lait spots; high rate of sister chromatid exchange; chromosome breakage; donor subject is homozygous for a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM09960.

Publications

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Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021
PubMed ID: 35394024
 
German J, Bloom D, Passarge E, Bloom's syndrome. V. Surveillance for cancer in affected families. Clin Genet12:162-8 1977
PubMed ID: 908169

External Links

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dbSNP dbSNP ID: 19694
Gene Cards BLM
RECQL3
Gene Ontology GO:0003677 DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0016787 hydrolase activity
GO:0019735 antimicrobial humoral response (sensu Vertebrata)
NCBI Gene Gene ID:641
NCBI GTR 210900 BLOOM SYNDROME; BLM
604610 RECQ PROTEIN-LIKE 3; RECQL3
OMIM 210900 BLOOM SYNDROME; BLM
604610 RECQ PROTEIN-LIKE 3; RECQL3
Omim Description BLOOM SYNDROME; BLM
  BS; BLS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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