718 results match your criteria Rothmund-Thomson Syndrome

N-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts.

Gene 2021 Jun 15;787:145647. Epub 2021 Apr 15.

Department of Molecular Biology, Faculty of Pharmaceutical Sciences, Toho University, Funabashi-shi, Chiba 274-8510, Japan. Electronic address:

RecQ4, a member of the RecQ helicase family, is required for the maintenance of genome integrity. RecQ4 has been shown to promote the following two DNA double-strand break (DSB) repair pathways: non-homologous end joining (NHEJ) and homologous recombination (HR). However, its molecular function has not been fully elucidated. Read More

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Inherited skin disorders presenting with poikiloderma.

Int J Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio-type poikiloderma with neutropenia (PN). Read More

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Human RecQ Helicases in DNA Double-Strand Break Repair.

Front Cell Dev Biol 2021 25;9:640755. Epub 2021 Feb 25.

Division of Molecular Radiation Biology, Department of Radiation Oncology, UT Southwestern Medical Center, Dallas, TX, United States.

RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and animals. These helicases play important roles in multiple cellular functions, including DNA replication, transcription, DNA repair, and telomere maintenance. Humans have five RecQ helicases: RECQL1, Bloom syndrome protein (BLM), Werner syndrome helicase (WRN), RECQL4, and RECQL5. Read More

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February 2021

Pregnancy in a patient with Rothmund-Thomson type 2 syndrome.

Int J Gynaecol Obstet 2021 Jul 2;154(1):181-182. Epub 2021 Apr 2.

Cardiology Department, James Black Centre, King's College London, London, UK.

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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Int J Mol Sci 2021 Jan 18;22(2). Epub 2021 Jan 18.

Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.

Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. Read More

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January 2021

Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity.

J Clin Immunol 2021 May 18;41(4):748-755. Epub 2021 Jan 18.

Paediatric Hemato-Oncology Department, La Paz University Hospital, Madrid, Spain.

Purpose: Use of adoptive immunotherapy with virus-specific T cells (VST) in patients with inborn errors of immunity prior to hematopoietic stem cell transplantation (HSCT) has been reported in few patients. We report our experience, reviewing all the cases previously reported.

Methods: We report four children with inborn errors of immunity who received VST infusion in a pre-HSCT setting in two reference centers in Spain and review all inborn errors of immunity cases previously reported. Read More

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Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.

Cureus 2020 Dec 3;12(12):e11865. Epub 2020 Dec 3.

Hematology and Oncology, Lehigh Valley Cancer Institute, Allentown, USA.

Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in increased predilection to develop various malignancies. Read More

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December 2020

Rothmund-Thomson Syndrome-like RECQL4 truncating mutations cause a haploinsufficient low bone mass phenotype in mice.

Mol Cell Biol 2020 Dec 23. Epub 2020 Dec 23.

St. Vincent's Institute of Medical Research, Fitzroy, VIC 3065 Australia;

Rothmund-Thomson Syndrome (RTS) is an autosomal recessive disorder characterized by defects in the skeletal system such as bone hypoplasia, short stature, low bone mass, and an increased incidence of osteosarcoma. RTS type 2 patients have germline compound bi-allelic protein-truncating mutations of As existing murine models employ null alleles, we have attempted to more accurately model RTS by generating mice with patient-mimicking truncating mutations. Truncating mutations impaired the stability and subcellular localization of RECQL4, and resulted in homozygous embryonic lethality and a haploinsufficient low bone mass phenotype. Read More

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December 2020

Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.

J Invest Dermatol 2021 Apr 19;141(4S):968-975. Epub 2021 Jan 19.

Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA. Electronic address:

Defects in DNA repair pathways and alterations of mitochondrial energy metabolism have been reported in multiple skin disorders. More than 10% of patients with primary mitochondrial dysfunction exhibit dermatological features including rashes and hair and pigmentation abnormalities. Accumulation of oxidative DNA damage and dysfunctional mitochondria affect cellular homeostasis leading to increased apoptosis. Read More

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Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.

NPJ Genom Med 2020 4;5:51. Epub 2020 Dec 4.

Department of Pediatrics, University Clinic of Navarra, Pamplona, Spain.

Rothmund-Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the gene. Read More

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December 2020

A rare case of meibomian gland dysgenesis in Rothmund-Thomson syndrome.

J Fr Ophtalmol 2021 Jan 4;44(1):e55-e57. Epub 2020 Dec 4.

Service d'ophtalmologie, hôpital Omar-Drissi, CHU Hassan II, 24, RCE sanabil II, Appt 2, avenue Mly-Hicham, 30050 Fès, Morocco. Electronic address:

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January 2021

Synthetic Lethal Interactions of RECQ Helicases.

Trends Cancer 2021 02 9;7(2):146-161. Epub 2020 Oct 9.

Section on DNA Helicases, Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA. Electronic address:

DNA helicases have risen to the forefront as genome caretakers. Their prominent roles in chromosomal stability are demonstrated by the linkage of mutations in helicase genes to hereditary disorders with defects in DNA repair, the replication stress response, and/or transcriptional activation. Conversely, accumulating evidence suggests that DNA helicases in cancer cells have a network of pathway interactions such that codeficiency of some helicases and their genetically interacting proteins results in synthetic lethality (SL). Read More

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February 2021

Second Osteosarcoma in a 16-Year-old Woman Diagnosed With Rothmund-Thomson Syndrome.

J Pediatr Hematol Oncol 2021 05;43(4):e532-e534

Hospital Gregorio Marañon, Madrid, España.

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma (OS) when it is caused by concrete mutations in the RECQL4 gene. Most OSs arise sporadically, but it can also be the first manifestation of a cancer predisposition syndrome as Rothmund Thompson. The early onset, multifocality and metachronism, and a family history of the disease, may suggest a tumor predisposition syndrome. Read More

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RECQ DNA Helicases and Osteosarcoma.

Adv Exp Med Biol 2020 ;1258:37-54

Department of Pediatrics, Section of Hematology/Oncology, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA.

The RECQ family of DNA helicases is a conserved group of enzymes that plays an important role in maintaining genomic stability. Humans possess five RECQ helicase genes, and mutations in three of them - BLM, WRN, and RECQL4 - are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively. These syndromes share overlapping clinical features, and importantly they are all associated with an increased risk of cancer. Read More

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December 2020

Human Papillomavirus-induced Cutaneous and Mucosal Lesions in a Patient with Rothmund-Thomson Syndrome.

Acta Derm Venereol 2020 Aug 19;100(15):adv00252. Epub 2020 Aug 19.

Department of Dermatology, Venereology and Allergology, HELIOS St Elisabeth Hospital Oberhausen, Josefstr. 3, DE-46045 Oberhausen, Germany.

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Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: A review.

Aditya Mojumdar

Biophys Chem 2020 10 16;265:106433. Epub 2020 Jul 16.

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. Read More

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October 2020

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.

An Bras Dermatol 2020 Jul - Aug;95(4):538-540. Epub 2020 May 14.

Department of Dermatology, Second Affiliated Hospital, Xi'An Jiaotong University, Shaanxi, China.

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Malar rash in a young child with neurodevelopmental delay: a quiz.

Arch Dis Child Educ Pract Ed 2020 May 23. Epub 2020 May 23.

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. Read More

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Interaction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase.

Nucleic Acids Res 2020 07;48(12):6530-6546

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. Read More

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iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS.

Stem Cell Res 2020 05 28;45:101807. Epub 2020 Apr 28.

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. Read More

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Functional conservation of RecQ helicase BLM between humans and Drosophila melanogaster.

Sci Rep 2019 11 26;9(1):17527. Epub 2019 Nov 26.

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. Read More

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November 2019

Enrichment of heterozygous germline loss-of-function variants in pediatric osteosarcoma.

Cold Spring Harb Mol Case Stud 2019 10 23;5(5). Epub 2019 Oct 23.

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. Read More

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October 2019

Human RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment.

Int J Cancer 2020 06 6;146(11):3098-3113. Epub 2019 Oct 6.

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. Read More

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Histopathologic features of Rothmund-Thomson syndrome.

JAAD Case Rep 2019 Aug 5;5(8):726-728. Epub 2019 Aug 5.

Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan.

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Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.

J Pediatr Genet 2019 Sep 9;8(3):163-167. Epub 2019 Apr 9.

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. Read More

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September 2019

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

Am J Hum Genet 2019 09 11;105(3):625-630. Epub 2019 Jul 11.

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. Read More

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September 2019

ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.

PLoS Genet 2019 07 5;15(7):e1008266. Epub 2019 Jul 5.

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. Read More

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Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.

Acta Derm Venereol 2019 Jun;99(7):695-696

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 200092 Shanghai, China.

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