|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Because patients with RAPADILINO syndrome and a subset of patients with RTS have RECQL4 mutations, we reassessed two previously reported BGS families and found causal mutations in RECQL4 in both.
|
15964893 |
2006 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RECQL4 are responsible for the majority of cases of RTS.
|
27287744 |
2017 |
|
Rothmund-Thomson syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome.
|
17250521 |
2007 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS).
|
29080750 |
2018 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that primary RTS and RECQL4 siRNA knockdown human fibroblasts accumulate more H(2)O(2)-induced DNA strand breaks than control cells, suggesting that RECQL4 may stimulate repair of H(2)O(2)-induced DNA damage.
|
19567405 |
2009 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
This report strengthens the association between mutations in RECQL4 helicase gene and RTS.
|
10678659 |
2000 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively.
|
12200042 |
2002 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk of malignancy.
|
16630167 |
2006 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with Rothmund-Thomson syndrome (RTS) and RECQL4 gene mutations have an increased risk of developing osteosarcoma (OS).
|
17264332 |
2007 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RECQL4 gene are only observed in two thirds of RTS patients.
|
21872685 |
2012 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RECQL4 mutations can lead to Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO.
|
23161009 |
2013 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by biallelic mutations in RECQL4, a helicase involved with chromosomal instability and DNA repair.
|
22821900 |
2012 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
|
9934984 |
1999 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS.
|
15221963 |
2004 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genetic defects underlying RTS are truncating mutations in RECQL4, a gene involved with chromosomal stability.
|
21418107 |
2011 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The siblings were initially diagnosed as affected with Rothmund-Thomson syndrome (RTS [MIM #268400]), with which PN shows phenotypic overlap.
|
20004881 |
2010 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While it is possible that defects of RECQL4 mRNA processing might account for part of the clinical variability observed for this syndrome, only a thorough analysis at both genomic and RNA level may allow a genotype-phenotype correlation in RTS patients, restricting the search of a second RTS locus to the specific patients.
|
12838562 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cells depleted with RecQL4 or Rothmund-Thomson syndrome cells showed significant impairment in the activation of ATM and the downstream effector proteins such as checkpoint kinase 2 and p53 after DNA damage.
|
30594395 |
2019 |
|
Rothmund-Thomson syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
By comparative Northern blot analysis, we show that the RECQL4 transcripts are severely down-regulated in the cells from RTS patients, similar to our previous observation for WRN transcripts in cells from Werner patients.
|
10552928 |
1999 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Primary RTS fibroblasts from these RTS patients show no sensitivity to a wide variety of genotoxic agents including ionizing or ultraviolet irradiation, nitrogen mustard, 4NQO, 8-MOP, Cis-Pt, MMC, H2O2, HU, or UV plus caffeine which could be related to the RECQL4 alterations identified here.
|
18616953 |
2008 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.
|
20503338 |
2010 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the RECQ4 gene, one of five human homologs of the E. coli recQ gene, have been identified in a subset of RTS patients.
|
16214424 |
2006 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This protective genomic function of the protein is relevant because often patients with Rothmund-Thomson syndrome have constitutional mutations of RECQL4 and carry a very high risk of developing OS.
|
19242607 |
2009 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In human cells, there exist five RecQ DNA helicases, and mutations of three of these helicases, encoded by the BLM, WRN and RECQL4 genes, give rise to the cancer predisposition disorders, Bloom syndrome (BS), Werner syndrome (WS) and Rothmund-Thomson syndrome (RTS), respectively.
|
18719387 |
2008 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Biochemical experiments indicate that RECQL4 specifically stimulates the apurinic endonuclease activity of APE1, the DNA strand displacement activity of DNA polymerase beta, and incision of a 1- or 10-nucleotide flap DNA substrate by Flap Endonuclease I. Additionally, RTS cells display an upregulation of BER pathway genes and fail to respond like normal cells to oxidative stress.
|
19567405 |
2009 |