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[PMID]: 29462647
[Au] Autor:Gui B; Song Y; Hu X; Li H; Qin Z; Su J; Li C; Fan X; Li M; Luo J; Feng Y; Song L; Chen S; Gong C; Shen Y
[Ad] Address: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.
[Ti] Title:Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
[So] Source:Gene;, 2018 Feb 17.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands. Variants detected by NGS were confirmed by Sanger sequencing and examined in family members. RESULTS: The probands presented with characteristic features of severe growth delay, poikiloderma mostly on the face, buttocks and extremities, sparse or absent hair, eyelashes, and eyebrows, forearm reduction defects, small hands with hypoplasia of the middle phalanx (little finger) in one of the probands, epicanthus, hypertelorism, and dental abnormalities. In addition, novel auricle features and other rare facial features, including narrow palpebral fissure, depressed nasal bridge, and small chin were exhibited. Four novel RECQL4 variants were identified, including three pathogenic frameshift variants, c.1724_1725delAC, p.His575fs*7; c.2421dupT, p.Asp808*; c.1770_1807del, p.Pro591fs*2, and one likely pathogenic missense variant, c.691G>A, p.Gly231Ser. CONCLUSION: Our study expands the mutational spectrum of RECQL4 gene and reveals novel phenotypes observed in Chinese RTS patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher

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[PMID]: 29196523
[Au] Autor:Rivera-Mulia JC; Desprat R; Trevilla-Garcia C; Cornacchia D; Schwerer H; Sasaki T; Sima J; Fells T; Studer L; Lemaitre JM; Gilbert DM
[Ad] Address:Department of Biological Science, Florida State University, Tallahassee, FL 32306.
[Ti] Title:DNA replication timing alterations identify common markers between distinct progeroid diseases.
[So] Source:Proc Natl Acad Sci U S A;114(51):E10972-E10980, 2017 Dec 19.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Here, we characterized DNA RT program alterations in Hutchinson-Gilford progeria syndrome (HGPS) and Rothmund-Thomson syndrome (RTS) patients compared with natural aging and cellular senescence. Our results identified a progeroid-specific RT signature that is common to cells from three HGPS and three RTS patients and distinguishes them from healthy individuals across a wide range of ages. Among the RT abnormalities, we identified the tumor protein p63 gene ( ) as a gene marker for progeroid syndromes. By using the redifferentiation of four patient-derived induced pluripotent stem cells as a model for the onset of progeroid syndromes, we tracked the progression of RT abnormalities during development, revealing altered RT of the gene as an early event in disease progression of both HGPS and RTS. Moreover, the RT abnormalities in progeroid patients were associated with altered isoform expression of Our findings demonstrate the value of RT studies to identify biomarkers not detected by other methods, reveal abnormal RT as an early event in progeroid disease progression, and suggest gene regulation as a potential therapeutic target.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180210
[Lr] Last revision date:180210
[St] Status:In-Data-Review
[do] DOI:10.1073/pnas.1711613114

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[PMID]: 29224249
[Au] Autor:Bhoyrul B; Lindsay H; Robinson R; Stahlschmidt J; Palmer T; Edward S; Clark SM
[Ad] Address:Department of Dermatology, Chapel Allerton Hospital, Chapeltown Road, Leeds, UK.
[Ti] Title:Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.
[So] Source:J Eur Acad Dermatol Venereol;, 2017 Dec 10.
[Is] ISSN:1468-3083
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1712
[Cu] Class update date: 171226
[Lr] Last revision date:171226
[St] Status:Publisher
[do] DOI:10.1111/jdv.14742

  4 / 561 MEDLINE  
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[PMID]: 29229926
[Au] Autor:Lu H; Shamanna RA; de Freitas JK; Okur M; Khadka P; Kulikowicz T; Holland PP; Tian J; Croteau DL; Davis AJ; Bohr VA
[Ad] Address:Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.
[Ti] Title:Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair.
[So] Source:Nat Commun;8(1):2039, 2017 Dec 11.
[Is] ISSN:2041-1723
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. RECQL4 interacts with Ku70 to promote NHEJ in G1 when overall cyclin-dependent kinase (CDK) activity is low. During S/G2 phases, CDK1 and CDK2 (CDK1/2) phosphorylate RECQL4 on serines 89 and 251, enhancing MRE11/RECQL4 interaction and RECQL4 recruitment to DSBs. After phosphorylation, RECQL4 is ubiquitinated by the DDB1-CUL4A E3 ubiquitin ligase, which facilitates its accumulation at DSBs. Phosphorylation of RECQL4 stimulates its helicase activity, promotes DNA end resection, increases HR and cell survival after ionizing radiation, and prevents cellular senescence. Collectively, we propose that RECQL4 modulates the pathway choice of NHEJ and HR in a cell cycle-dependent manner.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Data-Review
[do] DOI:10.1038/s41467-017-02146-3

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[PMID]: 29080750
[Au] Autor:Mo D; Zhao Y; Balajee AS
[Ad] Address:Chinese Academy of Science, Beijing Institute of Genomics, Beijing CN 100029, China; University of Chinese Academy of Sciences, Beijing 100049, China.
[Ti] Title:Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
[So] Source:Cancer Lett;413:1-10, 2018 Jan 28.
[Is] ISSN:1872-7980
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract: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. Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively. However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS). Cells from WS, BS and RTS are characterized by a unique chromosomal anomaly indicating that each of the RecQ helicases performs specialized function(s) in a non-redundant manner. Elucidating the biological functions of RecQ helicases will enable us to understand not only the aging process but also to determine the cause for age-associated human diseases. Recent biochemical and molecular studies have given new insights into the multifaceted roles of RecQL4 that range from genomic stability to carcinogenesis and beyond. This review summarizes some of the existing and emerging knowledge on diverse biological functions of RecQL4 and its significance as a potential molecular target for cancer therapy.
[Mh] MeSH terms primary: Anal Canal/abnormalities
Biomarkers, Tumor/metabolism
Cell Transformation, Neoplastic/metabolism
Craniosynostoses/enzymology
Dwarfism/enzymology
Genomic Instability
Heart Septal Defects, Atrial/enzymology
Limb Deformities, Congenital/enzymology
Neoplasms/enzymology
Patella/abnormalities
Radius/abnormalities
RecQ Helicases/metabolism
Rothmund-Thomson Syndrome/enzymology
[Mh] MeSH terms secundary: Anal Canal/enzymology
Antineoplastic Agents/therapeutic use
Biomarkers, Tumor/antagonists & inhibitors
Biomarkers, Tumor/genetics
Cell Proliferation
Cell Transformation, Neoplastic/genetics
Cell Transformation, Neoplastic/pathology
Craniosynostoses/genetics
DNA Repair
DNA Replication
DNA, Mitochondrial/genetics
DNA, Mitochondrial/metabolism
Dwarfism/genetics
Enzyme Inhibitors/therapeutic use
Genetic Predisposition to Disease
Heart Septal Defects, Atrial/genetics
Humans
Limb Deformities, Congenital/genetics
Mutation
Neoplasms/drug therapy
Neoplasms/genetics
Neoplasms/pathology
Patella/enzymology
Phenotype
Radius/enzymology
RecQ Helicases/antagonists & inhibitors
RecQ Helicases/genetics
Rothmund-Thomson Syndrome/genetics
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Antineoplastic Agents); 0 (Biomarkers, Tumor); 0 (DNA, Mitochondrial); 0 (Enzyme Inhibitors); EC 3.6.1.- (RECQL4 protein, human); EC 3.6.4.12 (RecQ Helicases)
[Em] Entry month:1712
[Cu] Class update date: 171204
[Lr] Last revision date:171204
[Js] Journal subset:IM
[Da] Date of entry for processing:171030
[St] Status:MEDLINE

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[PMID]: 29044077
[Au] Autor:Chinmayee JT; Meghana GR; Prathiba RK; Ramesh TK
[Ad] Address:Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India.
[Ti] Title:Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.
[So] Source:Indian J Ophthalmol;65(10):1025-1027, 2017 Oct.
[Is] ISSN:1998-3689
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract: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. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal. The patient was treated with topical lubricants which reduced photophobia and corneal erosions. He then underwent symblepharon release with buccal mucosal grafting, which improved ectropion. Patient improved symptomatically with reduction of photophobia and improvement in vision as well.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171018
[Lr] Last revision date:171018
[St] Status:In-Process
[do] DOI:10.4103/ijo.IJO_89_17

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[PMID]: 28572264
[Au] Autor:Walsh MF; Chang VY; Kohlmann WK; Scott HS; Cunniff C; Bourdeaut F; Molenaar JJ; Porter CC; Sandlund JT; Plon SE; Wang LL; Savage SA
[Ad] Address:Memorial Sloan Kettering Cancer Center, New York, New York. walshm2@mskcc.org savagesh@mail.nih.gov.
[Ti] Title:Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
[So] Source:Clin Cancer Res;23(11):e23-e31, 2017 Jun 01.
[Is] ISSN:1078-0432
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood. Although it is clear that the risk of cancer is increased, there are limited data defining the true incidence of cancer and almost no evidence-based approaches to cancer surveillance in patients with DNA repair disorders. This article is the product of the October 2016 AACR Childhood Cancer Predisposition Workshop, which brought together experts from around the world to discuss and develop cancer surveillance guidelines for children with cancer-prone disorders. Herein, we focus on the more common of the rare DNA repair disorders: ataxia telangiectasia, Bloom syndrome, Fanconi anemia, dyskeratosis congenita, Nijmegen breakage syndrome, Rothmund-Thomson syndrome, and Xeroderma pigmentosum. Dedicated syndrome registries and a combination of basic science and clinical research have led to important insights into the underlying biology of these disorders. Given the rarity of these disorders, it is recommended that centralized centers of excellence be involved directly or through consultation in caring for patients with heritable DNA repair syndromes.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1706
[Cu] Class update date: 171122
[Lr] Last revision date:171122
[St] Status:In-Process
[do] DOI:10.1158/1078-0432.CCR-17-0465

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[PMID]: 28486640
[Au] Autor:Cao F; Lu L; Abrams SA; Hawthorne KM; Tam A; Jin W; Dawson B; Shypailo R; Liu H; Lee B; Nagamani SCS; Wang LL
[Ad] Address:Interdepartmental Program in Translational Biology and Molecular Medicine.
[Ti] Title:Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
[So] Source:Hum Mol Genet;26(16):3046-3055, 2017 Aug 15.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. In this report, we provide a detailed evaluation of 29 individuals with RTS with respect to their metabolic bone status including bone mineral density, calcium kinetics studies, and markers of bone remodeling. We show that individuals with RTS have decreased areal bone mineral density. Additionally, we demonstrate that the presence of pathogenic variants in RECQL4 and low bone mineral density correlate with the history of increased risk of fractures. Using a RECQL4-deficient mouse model that recapitulates skeletal abnormalities seen in individuals with RTS, we demonstrate that generalized skeletal involvement is likely due to decreased osteogenesis. Our findings are clinically relevant as they may help in the risk stratification of patients with RTS and also in the identification of individuals who may benefit from additional surveillance and management of metabolic bone disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170915
[Lr] Last revision date:170915
[St] Status:In-Process
[do] DOI:10.1093/hmg/ddx178

  9 / 561 MEDLINE  
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[PMID]: 28443301
[Au] Autor:Yang JY; Sohn YB; Lee JS; Jang JH; Lee ES
[Ad] Address:Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.
[Ti] Title:Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.
[So] Source:JAAD Case Rep;3(3):172-174, 2017 May.
[Is] ISSN:2352-5126
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.jdcr.2017.01.023

  10 / 561 MEDLINE  
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[PMID]: 28421271
[Au] Autor:Baumhoer D
[Ad] Address:Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz. daniel.baumhoer@usb.ch.
[Ti] Title:Hereditäre Knochentumoren. [Hereditary bone tumors].
[So] Source:Pathologe;38(3):179-185, 2017 May.
[Is] ISSN:1432-1963
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract: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). The majority of syndromes are incompletely understood and can lead to multiple benign tumors, of which some might undergo secondary malignant transformation over time (enchondromatosis: enchondromas, multiple hereditary exostoses: osteochondromas, Gardner syndrome: osteomas) or bone sarcomas, primarily osteosarcomas as primary (Li-Fraumeni, Rothmund-Thomson, Werner and Bloom syndromes) or secondary manifestation (retinoblastoma syndrome) of the disease. Some syndromes additionally predispose to the development of a variety of other malignant tumors during life. Compared to sporadically occurring tumors, syndrome-related neoplasms can differ in the time of manifestation, site and histology, which can help in recognizing a specific tumor predisposition syndrome.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 171004
[Lr] Last revision date:171004
[St] Status:In-Process
[do] DOI:10.1007/s00292-017-0284-y


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