701 results match your criteria Rothmund-Thomson Syndrome


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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http://dx.doi.org/10.1016/j.abd.2019.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335851PMC

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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http://dx.doi.org/10.1136/archdischild-2019-318334DOI Listing

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

Nucleic Acids Res 2020 Jul;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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http://dx.doi.org/10.1093/nar/gkaa392DOI Listing

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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http://dx.doi.org/10.1016/j.scr.2020.101807DOI Listing

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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http://dx.doi.org/10.1038/s41598-019-54101-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879748PMC
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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http://dx.doi.org/10.1101/mcs.a004218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824257PMC
October 2019
3 Reads

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

Int J Cancer 2020 Jun 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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http://dx.doi.org/10.1002/ijc.32670DOI Listing

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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http://dx.doi.org/10.1016/j.jdcr.2019.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698608PMC

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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http://dx.doi.org/10.1055/s-0039-1684017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688877PMC
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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http://dx.doi.org/10.1016/j.ajhg.2019.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731352PMC
September 2019
3 Reads
10.931 Impact Factor

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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http://dx.doi.org/10.1371/journal.pgen.1008266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636780PMC
July 2019
6 Reads

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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http://dx.doi.org/10.2340/00015555-3186DOI Listing
June 2019
21 Reads

Rothmund-Thomson syndrome type 2 - a rare cause of chronic wounds.

J Dtsch Dermatol Ges 2019 04 1;17(4):451-453. Epub 2019 Mar 1.

Department of Dermatology, University Medical Center, Essen, Germany.

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http://dx.doi.org/10.1111/ddg.13805DOI Listing
April 2019
3 Reads

Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome.

Life Sci Alliance 2019 02 4;2(1). Epub 2019 Feb 4.

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. Read More

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http://dx.doi.org/10.26508/lsa.201800120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362308PMC
February 2019
7 Reads

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 Apr;99(4):360-369

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. Read More

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http://dx.doi.org/10.2340/00015555-3123DOI Listing
April 2019
37 Reads

ATM activation is impaired in human cells defective in RecQL4 helicase activity.

Biochem Biophys Res Commun 2019 02 26;509(2):379-383. Epub 2018 Dec 26.

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. Read More

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http://dx.doi.org/10.1016/j.bbrc.2018.12.151DOI Listing
February 2019
3 Reads

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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http://dx.doi.org/10.1155/2018/7536832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222232PMC
October 2018
3 Reads

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
27 Reads

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

Stem Cell Res 2018 12 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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https://linkinghub.elsevier.com/retrieve/pii/S18735061183024
Publisher Site
http://dx.doi.org/10.1016/j.scr.2018.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317900PMC
December 2018
19 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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http://dx.doi.org/10.1038/s41389-018-0080-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134139PMC
September 2018
12 Reads

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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http://dx.doi.org/10.1016/j.jdermsci.2018.06.005DOI Listing
September 2018
7 Reads

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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http://dx.doi.org/10.1016/j.mad.2018.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217841PMC
July 2018
14 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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http://dx.doi.org/10.3390/ijms19041103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979380PMC
April 2018
40 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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http://dx.doi.org/10.4103/jisp.jisp_372_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855273PMC
March 2018
5 Reads

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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http://dx.doi.org/10.1016/j.gene.2018.02.047DOI Listing
May 2018
17 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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http://dx.doi.org/10.1136/bcr-2017-222384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786930PMC
January 2018
6 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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http://www.nature.com/articles/s41467-017-02146-3
Publisher Site
http://dx.doi.org/10.1038/s41467-017-02146-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725494PMC
December 2017
41 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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http://dx.doi.org/10.1111/jdv.14742DOI Listing
June 2018
6 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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http://dx.doi.org/10.1073/pnas.1711613114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754778PMC
December 2017
17 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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http://dx.doi.org/10.1016/j.canlet.2017.10.021DOI Listing
January 2018
9 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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http://dx.doi.org/10.4103/ijo.IJO_89_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678305PMC
October 2017
5 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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http://dx.doi.org/10.1016/j.path.2017.04.009DOI Listing
September 2017
9 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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http://dx.doi.org/10.1158/1078-0432.CCR-17-0465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697784PMC
June 2017
87 Reads
8.722 Impact Factor

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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http://dx.doi.org/10.1093/hmg/ddx178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886079PMC
August 2017
35 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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http://dx.doi.org/10.1016/j.jdcr.2017.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394190PMC
May 2017
14 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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http://dx.doi.org/10.1007/s00292-017-0284-yDOI Listing
May 2017
7 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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http://dx.doi.org/10.1074/jbc.M116.761510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392582PMC
April 2017
36 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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http://dx.doi.org/10.1074/jbc.M116.764324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354493PMC
March 2017
11 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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http://dx.doi.org/10.1007/s00431-016-2834-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243887PMC
February 2017
16 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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http://dx.doi.org/10.1002/humu.23148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518694PMC
February 2017
78 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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http://healthsciences.ku.dk/research/doctoral-degree-ku/degr
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November 2016
7 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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http://dx.doi.org/10.1111/jdv.13466DOI Listing
November 2016
6 Reads

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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https://linkinghub.elsevier.com/retrieve/pii/S01909622163004
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http://dx.doi.org/10.1016/j.jaad.2016.03.045DOI Listing
November 2016
7 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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http://dx.doi.org/10.5935/0004-2749.20160053DOI Listing
April 2017
6 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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http://dx.doi.org/10.1016/j.celrep.2016.05.079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576896PMC
June 2016
81 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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http://dx.doi.org/10.4103/0976-237X.183052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906872PMC
June 2016
10 Reads