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NG17524 DNA from Fibroblast

Description:

ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4

Affected:

Yes

Sex:

Female

Age:

4 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Class Disorders of Uncertain Biochemical Etiology
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; culture from affected skin sample; skin rash at age 4 months; delayed tooth eruption; skin abnormalities (telangiectasia, atrophy, increased/decreased pigmentation on face and extensor surfaces of the forearms); photosensitivity; the donor subject is a compound heterozygote; both alleles carry truncating mutations in the RECQL4 gene: allele one carries a G>A substitution at g.2626 (g.2626G>A) in exon 8 resulting in alternative splicing; allele two carries a 2 bp deletion at g.4644delAT in exon 15 resulting in a frameshift; in addition, there are three mutations which result in amino acid changes: a homozygous substitution at g.1551G>T in exon 5 resulting in an amino acid change GLU267ASP (E267D), a heterozygous substitution at g.4470G>A in exon 14 resulting in an amino acid change GLU>ASP (E>D), and a homozygous substitution at g.5321G>A in exon 17 resulting in an amino acid change ARG1005GLN (R1005Q); there was one silent homozygous mutation at nucleotide g.1488C>T in exon 5 resulting in no change S246S.

Characterizations

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PDL at Freeze 9.35
Passage Frozen 1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene RECQL4
Chromosomal Location 8q24.3
Allelic Variant 1 ; ROTHMUND-THOMSON SYNDROME
Identified Mutation g.2626G>A
 
Gene RECQL4
Chromosomal Location 8q24.3
Allelic Variant 2 ; ROTHMUND-THOMSON SYNDROME
Identified Mutation g.4644delAT; same as 603780.0003

Phenotypic Data

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Remarks Clinically affected; culture from affected skin sample; skin rash at age 4 months; delayed tooth eruption; skin abnormalities (telangiectasia, atrophy, increased/decreased pigmentation on face and extensor surfaces of the forearms); photosensitivity; the donor subject is a compound heterozygote; both alleles carry truncating mutations in the RECQL4 gene: allele one carries a G>A substitution at g.2626 (g.2626G>A) in exon 8 resulting in alternative splicing; allele two carries a 2 bp deletion at g.4644delAT in exon 15 resulting in a frameshift; in addition, there are three mutations which result in amino acid changes: a homozygous substitution at g.1551G>T in exon 5 resulting in an amino acid change GLU267ASP (E267D), a heterozygous substitution at g.4470G>A in exon 14 resulting in an amino acid change GLU>ASP (E>D), and a homozygous substitution at g.5321G>A in exon 17 resulting in an amino acid change ARG1005GLN (R1005Q); there was one silent homozygous mutation at nucleotide g.1488C>T in exon 5 resulting in no change S246S.

Publications

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Kim H, Choi H, Im JS, Park SY, Shin G, Yoo JH, Kim G, Lee JK, Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity The Journal of biological chemistry297:101148 2021
PubMed ID: 34473993
 
Park SY, Kim H, Im JS, Lee JK, ATM activation is impaired in human cells defective in RecQL4 helicase activity Biochemical and Biophysical Research Communications 297:101148 2018
PubMed ID: 30594395
 
Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM, Croteau DL, Bohr VA, Direct and indirect roles of RECQL4 in modulating base excision repair capacity Human molecular genetics18:3470-83 2009
PubMed ID: 19567405

External Links

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dbSNP dbSNP ID: 17580
Gene Cards RECQL4
RTS
Gene Ontology GO:0003676 nucleic acid binding
GO:0003678 DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0007275 development
GO:0008026 ATP-dependent helicase activity
GO:0016787 hydrolase activity
NCBI Gene Gene ID:9401
NCBI GTR 268400 ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
603780 RECQ PROTEIN-LIKE 4; RECQL4
OMIM 268400 ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
603780 RECQ PROTEIN-LIKE 4; RECQL4
Omim Description POIKILODERMA ATROPHICANS AND CATARACT
  ROTHMUND-THOMSON SYNDROME; RTS
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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