701 results match your criteria Rothmund-Thomson Syndrome


Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome.

Case Rep Genet 2018 25;2018:7536832. Epub 2018 Oct 25.

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. Read More

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October 2018

Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.

J Pak Med Assoc 2018 Oct;68(10):1531-1534

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. Read More

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October 2018
12 Reads

Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.

Stem Cell Res 2018 Dec 2;33:36-40. Epub 2018 Oct 2.

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. Read More

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December 2018
4 Reads

RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity.

Oncogenesis 2018 Sep 12;7(9):68. Epub 2018 Sep 12.

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. Read More

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September 2018
1 Read

Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.

J Dermatol Sci 2018 Sep 19;91(3):335-337. Epub 2018 Jun 19.

Department of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. Electronic address:

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September 2018

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Mech Ageing Dev 2018 07 9;173:80-83. Epub 2018 May 9.

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. Read More

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July 2018
6 Reads

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Int J Mol Sci 2018 Apr 6;19(4). Epub 2018 Apr 6.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.

Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogenic variants by predictions and transcripts analyses. Complete phenotype of patients #39 and #42 whose affected siblings developed osteosarcoma correlates with their c. Read More

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April 2018
7 Reads

Management of a granulomatous lesion in a patient with Kindler's Syndrome.

J Indian Soc Periodontol 2018 Jan-Feb;22(1):60-63

Department of Periodontics, JMF's ACPM Dental College and Hospital, Dhule, Maharashtra, India.

Kindler's syndrome is a rare vesiculobullous dermatological disorder sometimes involving multiple organs. First described by Kindler. The differential diagnosis includes Rothmund-Thomson syndrome and epidermolysis bullosa. Read More

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Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gene 2018 May 17;654:110-115. Epub 2018 Feb 17.

Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, United States. Electronic address:

Background: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, short stature and skeletal defects. Deleterious mutations in the RecQ-like DNA helicase type 4 (RECQL4) gene have been detected in approximately two-thirds of RTS cases.

Methods: Three Chinese patients from two unrelated families were enrolled for clinical evaluation. Read More

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May 2018
5 Reads

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to mutation.

BMJ Case Rep 2018 Jan 23;2018. Epub 2018 Jan 23.

Department of Combined Medicine-Pediatrics Residency Program, Hurley Medical Center, Flint, Michigan, USA.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of genes carry a high risk of developing osteosarcoma during childhood. Because of this, early genetic diagnosis is important. Read More

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January 2018
3 Reads

Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair.

Nat Commun 2017 12 11;8(1):2039. Epub 2017 Dec 11.

Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.

Pathway choice within DNA double-strand break (DSB) repair is a tightly regulated process to maintain genome integrity. RECQL4, deficient in Rothmund-Thomson Syndrome, promotes the two major DSB repair pathways, non-homologous end joining (NHEJ) and homologous recombination (HR). Here we report that RECQL4 promotes and coordinates NHEJ and HR in different cell cycle phases. Read More

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December 2017
32 Reads

Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.

J Eur Acad Dermatol Venereol 2018 Jun 26;32(6):e221-e223. Epub 2017 Dec 26.

Department of Dermatology, Chapel Allerton Hospital, Chapeltown Road, Leeds, UK.

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June 2018
3 Reads

DNA replication timing alterations identify common markers between distinct progeroid diseases.

Proc Natl Acad Sci U S A 2017 12 1;114(51):E10972-E10980. Epub 2017 Dec 1.

Department of Biological Science, Florida State University, Tallahassee, FL 32306;

Progeroid syndromes are rare genetic disorders that phenotypically resemble natural aging. Different causal mutations have been identified, but no molecular alterations have been identified that are in common to these diseases. DNA replication timing (RT) is a robust cell type-specific epigenetic feature highly conserved in the same cell types from different individuals but altered in disease. Read More

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December 2017
9 Reads

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.

Cancer Lett 2018 01 7;413:1-10. Epub 2017 Nov 7.

Radiation Emergency Assistance Center and Training Site, Oak Ridge Associated Universities, Oak Ridge Institute for Science and Education, Oak Ridge, TN 37830, USA. Electronic address:

Human RecQ helicases that share homology with E. coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Read More

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January 2018
4 Reads

Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.

Indian J Ophthalmol 2017 Oct;65(10):1025-1027

Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India.

A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Read More

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October 2017
3 Reads

Tumor Syndromes That Include Bone Tumors: An Update.

Surg Pathol Clin 2017 Sep;10(3):749-764

Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.

Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Read More

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September 2017
4 Reads

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Clin Cancer Res 2017 Jun;23(11):e23-e31

National Cancer Institute, Rockville, Maryland.

DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Read More

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June 2017
41 Reads

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

Hum Mol Genet 2017 08;26(16):3046-3055

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX 77030, USA.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. Read More

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August 2017
16 Reads

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

JAAD Case Rep 2017 May 14;3(3):172-174. Epub 2017 Apr 14.

Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.

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May 2017
4 Reads

[Hereditary bone tumors].

Authors:
D Baumhoer

Pathologe 2017 May;38(3):179-185

Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.

Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). Read More

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May 2017
4 Reads

A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation.

J Biol Chem 2017 04 22;292(14):5909-5920. Epub 2017 Feb 22.

From the College of Life Sciences, Northwest A&F University, Yangling, Shaanxi 712100, China,

Helicases play a critical role in processes such as replication or recombination by unwinding double-stranded DNA; mutations of these genes can therefore have devastating biological consequences. In humans, mutations in genes of three members of the RecQ family helicases (, , and ) give rise to three strikingly distinctive clinical phenotypes: Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome, respectively. However, the molecular basis for these varying phenotypic outcomes is unclear, in part because a full mechanistic description of helicase activity is lacking. Read More

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April 2017
17 Reads

Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.

J Biol Chem 2017 03 3;292(10):4313-4325. Epub 2017 Feb 3.

From the Molecular and Cell Biology, Taiwan International Graduate Program and.

Human RecQ-like helicase 4 (RECQL4) plays crucial roles in replication initiation and DNA repair; however, the contextual regulation of its unwinding activity is not fully described. Mutations in RECQL4 have been linked to three diseases including Rothmund-Thomson syndrome, which is characterized by osteoskeletal deformities, photosensitivity, and increased osteosarcoma susceptibility. Understanding regulation of RECQL4 helicase activity by interaction partners will allow deciphering its role as an enzyme and a signaling cofactor in different cellular contexts. Read More

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March 2017
2 Reads

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

Eur J Pediatr 2017 Feb 30;176(2):279-283. Epub 2016 Dec 30.

Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands.

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Read More

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February 2017
2 Reads

The Human RecQ4 Helicase Contains a Functional RecQ C-terminal Region (RQC) That Is Essential for Activity.

J Biol Chem 2017 03 20;292(10):4176-4184. Epub 2016 Dec 20.

From the Structural Biology Laboratory, Elettra-Sincrotrone Trieste, 34149 Basovizza, Trieste, Italy and

RecQ helicases are essential in the maintenance of genome stability. Five paralogues (RecQ1, Bloom, Werner, RecQ4, and RecQ5) are found in human cells, with distinct but overlapping roles. Mutations in human RecQ4 give rise to three distinct genetic disorders (Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes), characterized by genetic instability, growth deficiency, and predisposition to cancer. Read More

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March 2017
2 Reads

Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Hum Mutat 2017 02 9;38(2):193-203. Epub 2016 Dec 9.

Department of Genome Sciences, University of Washington, Seattle, Washington.

Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique base pair-level variants were identified, across 17,605 potential mutation sites. Read More

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February 2017
31 Reads

Neurodegeneration in accelerated aging.

Dan Med J 2016 Nov;63(11)

The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Read More

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November 2016
3 Reads

A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.

J Eur Acad Dermatol Venereol 2016 Nov 30;30(11):e159-e161. Epub 2015 Oct 30.

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

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November 2016
1 Read

Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.

J Am Acad Dermatol 2016 Nov;75(5):855-870

Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. Read More

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November 2016
3 Reads

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature.

Arq Bras Oftalmol 2016 May-Jun;79(3):186-8

Cornea and External Disease Unit, Hospital de São Paulo, São Paulo, SP, Brazil.

Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described. Read More

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April 2017
3 Reads

RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks.

Cell Rep 2016 06 16;16(1):161-173. Epub 2016 Jun 16.

Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA; Center for Healthy Aging and Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark. Electronic address:

The RecQ helicase RECQL4, mutated in Rothmund-Thomson syndrome, regulates genome stability, aging, and cancer. Here, we identify a crucial role for RECQL4 in DNA end resection, which is the initial and an essential step of homologous recombination (HR)-dependent DNA double-strand break repair (DSBR). Depletion of RECQL4 severely reduces HR-mediated repair and 5' end resection in vivo. Read More

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June 2016
28 Reads

Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.

Contemp Clin Dent 2016 Apr-Jun;7(2):240-2

Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.

The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Read More

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June 2016
4 Reads

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Ageing Res Rev 2017 Jan 7;33:30-35. Epub 2016 Jun 7.

Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA. Electronic address:

Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease which 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 carrying RECQL4 germline mutations. Mutations in RECQL4 are responsible for the majority of cases of RTS. Read More

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January 2017
16 Reads

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.

Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

Background: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses. Read More

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May 2016
29 Reads

Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.

Ageing Res Rev 2017 Jan 26;33:36-51. Epub 2016 May 26.

University of Arizona Cancer Center, 1515 N. Campbell Ave., Tucson, AZ 81724, United States. Electronic address:

Genomic instability is a hallmark of cancer and aging. Premature aging (progeroid) syndromes are often caused by mutations in genes whose function is to ensure genomic integrity. The RecQ family of DNA helicases is highly conserved and plays crucial roles as genome caretakers. Read More

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January 2017
2 Reads

Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion.

J Cell Sci 2016 Apr 18;129(7):1312-8. Epub 2016 Feb 18.

National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110067, India

Germline mutations in RECQL4 helicase are associated with Rothmund-Thomson syndrome, which is characterized by a predisposition to cancer. RECQL4 localizes to the mitochondria, where it acts as an accessory factor during mitochondrial DNA replication. To understand the specific mitochondrial functions of RECQL4, we created isogenic cell lines, in which the mitochondrial localization of the helicase was either retained or abolished. Read More

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April 2016
5 Reads
1 Citation
5.430 Impact Factor

Ocular manifestations of genetic skin disorders.

Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.

The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

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December 2016
8 Reads

Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.

J Am Acad Dermatol 2016 Mar;74(3):437-51; quiz 452-4

Department of Dermatology, Stanford University Medical Center, Stanford, California. Electronic address:

Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Read More

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March 2016
3 Reads

RECQL5 has unique strand annealing properties relative to the other human RecQ helicase proteins.

DNA Repair (Amst) 2016 Jan 2;37:53-66. Epub 2015 Dec 2.

Laboratory of Molecular Gerontology, National Institute on Aging, Intramural Research Program (NIA IRP), Biomedical Research Center, Baltimore, MD 21224, USA. Electronic address:

The RecQ helicases play important roles in genome maintenance and DNA metabolism (replication, recombination, repair, and transcription). Five different homologs are present in humans, three of which are implicated in accelerated aging genetic disorders: Rothmund Thomson (RECQL4), Werner (WRN), and Bloom (BLM) syndromes. While the DNA helicase activities of the 5 human RecQ helicases have been extensively characterized, much less is known about their DNA double strand annealing activities. Read More

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January 2016
17 Reads

RECQL4 helicase has oncogenic potential in sporadic breast cancers.

J Pathol 2016 Mar 2;238(4):495-501. Epub 2016 Feb 2.

Academic Unit of Oncology, Division of Cancer and Stem Cells, School of Medicine, University of Nottingham, UK.

RECQL4 helicase is a molecular motor that unwinds DNA, a process essential during DNA replication and DNA repair. Germ-line mutations in RECQL4 cause type II Rothmund-Thomson syndrome (RTS), characterized by a premature ageing phenotype and cancer predisposition. RECQL4 is widely considered to be a tumour suppressor, although its role in human breast cancer is largely unknown. Read More

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March 2016
36 Reads
5 Citations
7.430 Impact Factor

Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.

Case Rep Med 2015 5;2015:495164. Epub 2015 Nov 5.

University of Texas Health Science Center, 6431 Fannin Street, MSB 2.130B, Houston, TX 77030, USA.

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. Read More

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November 2015
2 Reads

Leg ulcer in a patient with Rothmund-Thomson syndrome.

Springerplus 2015 5;4:572. Epub 2015 Oct 5.

Department of Plastic, Reconstructive and Aesthetic Surgery, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.

Background: Rothmund-Thomson syndrome is a rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities.

Case Description: A 51-year-old male patient, diagnosed with Rothmund-Thomson syndrome, attended to our outpatient clinic with complaint of unhealing wound in lower part of his left leg. Over this period, he had received various local therapies such as creams, wound dressings and hyperbaric oxygen therapy but no progress could be achieved. Read More

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November 2015
4 Reads

Dental management of Rothmund-Thomson syndrome with partial anodontia.

BMJ Case Rep 2015 Jun 1;2015. Epub 2015 Jun 1.

Department of Pedodontics and Preventive Dentistry, Sharad Pawar Dental College, Wardha, Maharashtra, India.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive trait disease. It is characterised by skin, eye and skeletal abnormalities. Abnormalities associated with teeth include abnormal crown and root formations, rudimentary or hypoplastic teeth, microdontia and multiple missing teeth. Read More

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June 2015
4 Reads

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.

PLoS Genet 2015 Apr 10;11(4):e1005160. Epub 2015 Apr 10.

St. Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia; Department of Medicine, St. Vincent's Hospital, The University of Melbourne, Fitzroy, Victoria, Australia; ACRF Rational Drug Discovery Centre, St. Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia.

RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly increased incidence of osteosarcoma (OS). Read More

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April 2015
7 Reads

Plasmodium falciparum Werner homologue is a nuclear protein and its biochemical activities reside in the N-terminal region.

Protoplasma 2016 Jan 1;253(1):45-60. Epub 2015 Apr 1.

Malaria Group, International Centre for Genetic Engineering and Biotechnology, P. O. Box 10504, Aruna Asaf Ali Marg, New Delhi, 110067, India.

RecQ helicases, also addressed as a gatekeeper of genome, are an inevitable family of genome scrutiny proteins conserved from prokaryotes to eukaryotes and play a vital role in DNA metabolism. The deficiencies of three RecQ proteins out of five are involved in genetic abnormalities like Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS). It is noteworthy that Plasmodium falciparum contains only two members of the RecQ family as opposed to five members present in the host Homo sapiens. Read More

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January 2016
2 Reads

RECQ4 selectively recognizes Holliday junctions.

DNA Repair (Amst) 2015 Jun 28;30:80-9. Epub 2015 Feb 28.

Department of Biology, Masaryk University, Brno, Czech Republic; National Centre for Biomolecular Research, Masaryk University, Brno, Czech Republic; International Clinical Research Center, Center for Biomolecular and Cellular Engineering, St. Anne's University Hospital Brno, Brno, Czech Republic. Electronic address:

The RECQ4 protein belongs to the RecQ helicase family, which plays crucial roles in genome maintenance. Mutations in the RECQ4 gene are associated with three insidious hereditary disorders: Rothmund-Thomson, Baller-Gerold, and RAPADILINO syndromes. These syndromes are characterized by growth deficiency, radial ray defects, red rashes, and higher predisposition to malignancy, especially osteosarcomas. Read More

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June 2015
2 Reads

Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype?

Indian J Dermatol Venereol Leprol 2015 Mar-Apr;81(2):190-2

Department of Dermatology, Venereology and Leprosy, Dr. R. P. Government Medical College, Kangra, (Tanda), Himachal Pradesh, India.

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December 2015
6 Reads