752 results match your criteria: "Rothmund-Thomson Syndrome"
Acta Derm Venereol
August 2020
Department of Dermatology, Venereology and Allergology, HELIOS St Elisabeth Hospital Oberhausen, Josefstr. 3, DE-46045 Oberhausen, Germany.
Biophys Chem
October 2020
Department of Biochemistry and Molecular Biology, University of Calgary, 3330 Hospital Drive NW, Calgary, AB T2N 4N1, Canada. Electronic address:
RecQ helicases belong to a ubiquitous family of DNA unwinding enzymes that are essential to maintain genome stability by acting at the interface between DNA replication, recombination, and repair. Humans have five different paralogues of RecQ helicases namely RecQ1, BLM, WRN, RecQ4, and RecQ5. Germ-line mutations in these helicases give rise to distinct human genetic disorders, Bloom Syndrome, Werner Syndrome, Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes.
View Article and Find Full Text PDFAn Bras Dermatol
July 2020
Department of Dermatology, Second Affiliated Hospital, Xi'An Jiaotong University, Shaanxi, China.
Arch Dis Child Educ Pract Ed
February 2022
Dermatology, American University of Beirut Medical Center, Beirut, Lebanon
-A 14-month-old boy born to consanguineous parents presented to our Dermatology Department with a 6-month history of a malar eczematous rash that worsens with sun exposure. He had butterfly-shaped, hyperpigmented exfoliating plaques, preceded by blister formation (figure 1). He was also noticed to have enophthalmos, a pinched nose, microcephaly and a cachectic physique.
View Article and Find Full Text PDFNucleic Acids Res
July 2020
Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark.
OGG1 initiated base excision repair (BER) is the major pathway for repair of oxidative DNA base damage 8-oxoguanine (8-oxoG). Here, we report that RECQL4 DNA helicase, deficient in the cancer-prone and premature aging Rothmund-Thomson syndrome, physically and functionally interacts with OGG1. RECQL4 promotes catalytic activity of OGG1 and RECQL4 deficiency results in defective 8-oxoG repair and increased genomic 8-oxoG.
View Article and Find Full Text PDFStem Cell Res
May 2020
IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier France; SAFE-iPSC Facility INGESTEM, CHU de Montpellier, Montpellier, France. Electronic address:
Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease that manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients. Mutations in RECQL4 gene are responsible for cases of RTS.
View Article and Find Full Text PDFSci Rep
November 2019
Department of Human Science, Georgetown University Medical Center, Washington, DC, 20057, USA.
RecQ helicases are a family of proteins involved in maintaining genome integrity with functions in DNA repair, recombination, and replication. The human RecQ helicase family consists of five helicases: BLM, WRN, RECQL, RECQL4, and RECQL5. Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer.
View Article and Find Full Text PDFCold Spring Harb Mol Case Stud
October 2019
Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Patients harboring germline pathogenic biallelic variants in genes involved in the recognition and repair of DNA damage are known to have a substantially increased cancer risk. Emerging evidence suggests that individuals harboring heterozygous variants in these same genes may also be at heightened, albeit lesser, risk for cancer. Herein, we sought to determine whether heterozygous variants in , the gene encoding an essential DNA helicase that is defective in children with the autosomal recessive cancer-predisposing condition Rothmund-Thomson syndrome (RTS), are associated with increased risk for childhood cancer.
View Article and Find Full Text PDFInt J Cancer
June 2020
Department of Radiological Health Science, Institute of Industrial Ecological Sciences, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Ionizing radiation (IR) and cisplatin are frequently used cancer treatments, although the mechanisms of error-prone DNA repair-mediated genomic instability after anticancer treatment are not fully clarified yet. RECQL4 mutations mainly in the C-terminal region of the RECQL4 gene lead to the cancer-predisposing Rothmund-Thomson syndrome, but the function of RECQL4ΔC (C-terminus deleted) in error-prone DNA repair remains unclear. We established several RECQL4ΔC cell lines and found that RECQL4ΔC cancer cells, but not RECQL4ΔC nontumorigenic cells, exhibited IR/cisplatin hypersensitivity.
View Article and Find Full Text PDFJAAD Case Rep
August 2019
Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan.
J Pediatr Genet
September 2019
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants in . Case-1 was evaluated for poor growth and recurrent fractures and skin lesions.
View Article and Find Full Text PDFAm J Hum Genet
September 2019
Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:
Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. Type 2 RTS, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility and skeletal anomalies, whereas the genetic basis of RTS type 1, which is associated with juvenile cataracts, is unknown. We studied ten individuals, from seven families, who had RTS type 1 and identified a deep intronic splicing mutation of the ANAPC1 gene, a component of the anaphase-promoting complex/cyclosome (APC/C), in all affected individuals, either in the homozygous state or in trans with another mutation.
View Article and Find Full Text PDFPLoS Genet
July 2019
St. Vincent's Institute of Medical Research, Fitzroy, VIC, Australia.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), skeletal dysplasia, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies such as osteosarcoma and hematological neoplasms. RTS is caused by germ-line mutations in RECQL4, a RecQ helicase family member. In vitro studies have identified functions for the ATP-dependent helicase of RECQL4.
View Article and Find Full Text PDFActa Derm Venereol
June 2019
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 200092 Shanghai, China.
J Dtsch Dermatol Ges
April 2019
Department of Dermatology, University Medical Center, Essen, Germany.
Life Sci Alliance
February 2019
Friedrich Miescher Laboratory of the Max Planck Society, Tübingen, Germany
RecQ-like helicase 4 (RECQL4) is mutated in patients suffering from the Rothmund-Thomson syndrome, a genetic disease characterized by premature aging, skeletal malformations, and high cancer susceptibility. Known roles of RECQL4 in DNA replication and repair provide a possible explanation of chromosome instability observed in patient cells. Here, we demonstrate that RECQL4 is a microtubule-associated protein (MAP) localizing to the mitotic spindle.
View Article and Find Full Text PDFActa Derm Venereol
April 2019
Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.
Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management.
View Article and Find Full Text PDFBiochem Biophys Res Commun
February 2019
Department of Biology Education, Seoul National University, Seoul, 08826, South Korea; Interdisciplinary Graduate Program in Genetic Engineering, Seoul National University, Seoul, 08826, South Korea. Electronic address:
RecQL4 has been shown to be involved in DNA replication and repair, but its role in DNA damage checkpoint pathway has not been reported. Here, we show that RecQL4 plays an important role in the activation of ataxia telangiectasia mutated (ATM)-dependent checkpoint pathway in human cells. 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.
View Article and Find Full Text PDFCase Rep Genet
October 2018
Department of General Surgery, Northern Ontario School of Medicine, Sudbury, Ontario, Canada.
Rothmund-Thomson syndrome is a genetic disorder with characteristic findings in childhood as well as a predisposition to osteosarcoma, skin cancer, and hematological malignancy. We present the first reported case of duodenal malignancy in a patient with Rothmund-Thompson syndrome. An enlarged Virchow's node was noted and an advanced duodenal adenocarcinoma was diagnosed shortly thereafter.
View Article and Find Full Text PDFJ Pak Med Assoc
October 2018
Dow Medical College, Dow University of Health Sciences, Karachi.
We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. She was globally delayed, deaf, dumb and photophobic.
View Article and Find Full Text PDFStem Cell Res
December 2018
Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX 77030, USA; Center for Stem Cell and Regenerative Medicine, The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Center for Precision Health, School of Biomedical Informatics and School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:
The DNA helicase RECQL4 is known for its roles in DNA replication and repair. RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma. Here we reprogrammed fibroblasts with a heterozygous RECQL4 mutation (c.
View Article and Find Full Text PDFOncogenesis
September 2018
Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, 100101, Beijing, China.
Human RecQL4 helicase plays critical roles in the maintenance of genomic stability. Mutations in RecQL4 helicase results in three clinically related autosomal recessive disorders: Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome. In addition to several premature aging features, RTS patients are characterized by aneuploidy involving either loss or gain of a single chromosome.
View Article and Find Full Text PDFJ Dermatol Sci
September 2018
Department of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. Electronic address:
Mech Ageing Dev
July 2018
Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.
Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome.
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