Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

@article{Kitao1999MutationsIR,
  title={Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome},
  author={Saori Kitao and Akira Shimamoto and Makoto Goto and Robert W. Miller and William A. Smithson and Noralane Morey Lindor and Yasuhiro Furuichi},
  journal={Nature Genetics},
  year={1999},
  volume={22},
  pages={82-84}
}
Rothmund-Thomson syndrome (RTS; also known as poikiloderma congenitale) is a rare, autosomal recessive genetic disorder characterized by abnormalities in skin and skeleton, juvenile cataracts, premature ageing and a predisposition to neoplasia. Cytogenetic studies indicate that cells from affected patients show genomic instability often associated with chromosomal rearrangements causing an acquired somatic mosaicism. The gene(s) responsible for RTS remains unknown. The genes responsible for… Expand
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
TLDR
Results of RECQL4 test coupled to the variable clinical presentation favored the splitting of RTS clinical phenotype into nosological entities under distinct genetic control, which currently fits the pieces of evidence achieved by different approaches. Expand
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.
TLDR
It is determined that a DNA length of 60 nucleotides is required to maximally activate ATP hydrolysis by RECQ4, while the minimal site size for ssDNA binding byRECQ4 is between 20 and 40 nucleotide, and Interestingly, RECZ4 possesses a single-strand DNA annealing activity that is inhibited by the single-Strand DNA binding protein RPA. Expand
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Rothmund-Thomson syndrome (RTS), an autosomal recessive disorder, comprises poikiloderma, growth deficiency, some aspects of premature aging, and a predisposition to malignancy, especially osteogenicExpand
Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.
TLDR
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. Expand
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
TLDR
The skeletal malformations in RAPADILINO and RTS patients as well as the high osteosarcoma risk in RTS propose a special role for RECQL4 in bone development, which remains unknown, but based on the domain homology it possesses ATP-dependent DNA helicase activity. Expand
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
TLDR
The genomic organization of the RECQL4 gene is shown, including the exon-intron boundaries, the transcription initiation sites, and the potential promoter sequences, which facilitates further mutation analysis of the RecQ gene and studies to elucidate the pathogenesis behind Rothmund-Thomson syndrome. Expand
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund–Thomson patient
TLDR
Results herein reported on a sporadic Caucasian patient emphasize the concept that mutation analyses at both DNA and RNA level complement the genetic defect suggested by clinical and cytogenetic signs, restricting the search of a second RTS locus to the specific patients. Expand
Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents
TLDR
Primary fibroblasts from RTS patients carrying two deleterious RECQL4 mutations have increased sensitivity to HU, CPT, and doxorubicin (DOX), modest sensitivity to other DNA damaging agents including ultraviolet (UV) irradiation, ionizing radiation (IR), and cisplatin (CDDP), and relative resistance to 4NQO. Expand
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.
TLDR
The first homozygous mutation in RECQ4 helicase is reported: 2746-2756-delTGGGCTGAGGC in IVS8 responsible for the severe phenotype associated with RTS in a Malaysian pedigree. Expand
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
TLDR
This study expands the mutational spectrum of RECQ-like DNA helicase type 4 gene and reveals novel phenotypes observed in Chinese RTS patients. Expand
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