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    663 results match your criteria Rothmund-Thomson Syndrome

    1 OF 14

    A Helical Bundle in the N-terminal Domain of the BLM Helicase Mediates Dimer and Potentially Hexamer Formation.
    J Biol Chem 2017 Feb 22. Epub 2017 Feb 22.
    Northwest A&F University;
    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 human, mutations in genes of three members of the RecQ family helicases (blm, wrn and recq4) 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

    Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.
    J Biol Chem 2017 Mar 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

    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

    Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
    Hum Mutat 2017 Feb 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

    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

    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

    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

    RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks.
    Cell Rep 2016 Jun 16;16(1):161-73. 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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
    J Bone Miner Res 2015 Jun;30(6):1077-89
    Texas Children's Cancer Center, Department of Pediatrics, Houston, TX, USA.
    RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund-Thomson syndrome, RAPADILINO, and Baller-Gerold syndrome are rare genetic disorders caused by mutations in the RECQL4 gene. These patients have significant skeletal developmental abnormalities including radial ray, limb and craniofacial defects. Read More

    Osteosarcoma in patients with Rothmund-Thomson syndrome.
    Pediatr Hematol Oncol 2015 Feb 31;32(1):32-40. Epub 2014 Dec 31.
    1Cooperative Osteosarcoma Study Group (COSS), Pediatrics 5 (Oncology, Hematology, Immunology), Klinikum Stuttgart-Olgahospital , Germany.
    Background: Rothmund-Thomson syndrome (RTS) is associated with an increased risk of osteosarcoma, but information about affected patients is limited.

    Procedure: Seven patients with osteosarcoma, treated in the Cooperative Osteosarcoma Study Group-trials, had a diagnosis of RTS. Their patient-, tumor- and treatment-related variables and outcome were reviewed retrospectively. Read More

    Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.
    J Foot Ankle Surg 2016 Mar-Apr;55(2):291-3. Epub 2014 Oct 18.
    Fellowship Director, Foot and Ankle Reconstruction, and Department Chair, Foot and Ankle Department, Coordinated Health, Bethlehem, PA. Electronic address:
    Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, characterized by poikiloderma, small stature, juvenile cataracts, sparse hair, skeletal abnormalities, and a predisposition to osteogenic sarcomas and skin cancers. Although numerous skeletal abnormalities have been described in patients with Rothmund-Thomson syndrome, to our knowledge, only 1 study has shown evidence of delayed fracture healing in a patient with Rothmund-Thomson syndrome. We present the case of a 13-year-old female diagnosed with Rothmund-Thomson syndrome who demonstrated delayed union of her fifth metatarsal after a Jones fracture. Read More

    Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma: a case report and literature review.
    Int J Clin Exp Med 2014 15;7(10):3410-4. Epub 2014 Oct 15.
    Department of Pathology, 456th Hospital of Jinan Military Command Jinan 250031, China.
    Objective: To investigate the clinicopathological characteristics, diagnosis and differential diagnosis, and treatment of xeroderma pigmentosum associated with keratoacanthoma in an infant.

    Methods: The clinical manifestations of xeroderma pigmentosum associated with keratoacanthoma were assessed in an 18-month old boy. The morphological and histological features of the lesions were examined by light microscopy. Read More

    [Ocular manifestations in hereditary diseases with defects in DNA repair].
    Klin Oczna 2014 ;116(2):142-5
    DNA repair is involved in maintaining the stability of the genome and accurate sending of genetic information. DNA repair pathways remove many DNA damages induced by endo- and exogenous factors. There are several DNA repair pathways in human cells, including base or nucleotide excision system, homologous recombination system and non-homologous end joining. Read More

    Kindler's syndrome: a report of five cases in a family.
    J Coll Physicians Surg Pak 2014 Oct;24(10):763-5
    Department of Dermatology, PNS Shifa, Karachi.
    Kindler's Syndrome (KS) is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene (also known as KIND-1 gene) that encodes the protein Kindlin-1 (kindlerin). Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. Read More

    Rothmund-thomson syndrome: a 13-year follow-up.
    Case Rep Dermatol 2014 May 11;6(2):176-9. Epub 2014 Jul 11.
    Department of Dermatology, Hospital Universitario 'Dr. José Eleuterio González', Universidad Autónoma de Nuevo León, Monterrey, Mexico.
    Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. With about 300 cases reported so far, we present a 13-year follow-up including clinical images, X-rays and genetic analysis. A 13-month-old female started with a facial rash with blisters on her cheeks and limbs at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, eyebrows and eyelashes. Read More

    [Rare hereditary tumours].
    Magy Onkol 2014 Jun 10;58(2):94-7. Epub 2013 Nov 10.
    Onkológiai Osztály, MH Honvédkórház, Budapest, Hungary.
    Almost 5-10% of all tumours are hereditary, which manifest in tumour syndrome or neoplasmic complication of a genetic disease. We present a short introduction of some of these rare diseases through our patients with the aspect of the clinical signs, diversities and challenges. These cases indicate that the incidency of malignancies are increased at genetic diseases, it means even multiple neoplasms in the same patient. Read More

    Roles of DNA helicases in the maintenance of genome integrity.
    Mol Cell Oncol 2014 Jul-Sep;1(3):e963429. Epub 2014 Oct 29.
    Molecular and Cellular Biochemistry Department; Indiana University ; Bloomington, IN USA.
    Genome integrity is achieved and maintained by the sum of all of the processes in the cell that ensure the faithful duplication and repair of DNA, as well as its genetic transmission from one cell division to the next. As central players in virtually all of the DNA transactions that occur in vivo, DNA helicases (molecular motors that unwind double-stranded DNA to produce single-stranded substrates) represent a crucial enzyme family that is necessary for genomic stability. Indeed, mutations in many human helicase genes are linked to a variety of diseases with symptoms that can be generally described as genomic instability, such as predispositions to cancers. Read More

    The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
    J Clin Invest 2014 Aug 24;124(8):3551-65. Epub 2014 Jun 24.
    Mutations within the gene encoding the DNA helicase RECQL4 underlie the autosomal recessive cancer-predisposition disorder Rothmund-Thomson syndrome, though it is unclear how these mutations lead to disease. Here, we demonstrated that somatic deletion of Recql4 causes a rapid bone marrow failure in mice that involves cells from across the myeloid, lymphoid, and, most profoundly, erythroid lineages. Apoptosis was markedly elevated in multipotent progenitors lacking RECQL4 compared with WT cells. Read More

    RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex.
    Carcinogenesis 2014 Nov 18;35(11):2415-24. Epub 2014 Jun 18.
    Laboratory of Molecular Gerontology, Biomedical Research Center, National Institute on Aging, NIH, 251 Bayview Boulevard, Baltimore, MD 21224, USA, INRA, Université de Toulouse, UMR1331, Toxalim, Research Centre in Food Toxicology, F-31027 Toulouse, France and Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark
    RECQL4, a member of the RecQ helicase family, is a multifunctional participant in DNA metabolism. RECQL4 protein participates in several functions both in the nucleus and in the cytoplasm of the cell, and mutations in human RECQL4 are associated with three genetic disorders: Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. We previously reported that RECQL4 is recruited to laser-induced DNA double-strand breaks (DSB). Read More

    RECQ DNA helicases and osteosarcoma.
    Adv Exp Med Biol 2014 ;804:129-45
    Section of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX, 77030, USA,
    The RECQ family of DNA helicases is a conserved group of enzymes that are important for maintaining genomic integrity. In humans, there are 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. Importantly all three diseases are cancer predisposition syndromes. Read More

    Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.
    Cell Death Dis 2014 May 15;5:e1226. Epub 2014 May 15.
    Laboratory of Molecular Gerontology, Biomedical Research Center, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA.
    Cellular senescence refers to irreversible growth arrest of primary eukaryotic cells, a process thought to contribute to aging-related degeneration and disease. Deficiency of RecQ helicase RECQL4 leads to Rothmund-Thomson syndrome (RTS), and we have investigated whether senescence is involved using cellular approaches and a mouse model. We first systematically investigated whether depletion of RECQL4 and the other four human RecQ helicases, BLM, WRN, RECQL1 and RECQL5, impacts the proliferative potential of human primary fibroblasts. Read More

    Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
    Clin Genet 2015 Mar 26;87(3):244-51. Epub 2014 Mar 26.
    EA 4271 GAD "Génétique des Anomalies du Développement", IFR Santé STIC, Université de Bourgogne, Dijon, France; Centre de Génétique Humaine, CHU Besançon, Besançon, France.
    Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. Read More

    Bloom syndrome.
    Int J Dermatol 2014 Jul 6;53(7):798-802. Epub 2014 Mar 6.
    Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.
    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. Read More

    Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
    Eur J Hum Genet 2014 Nov 12;22(11):1298-304. Epub 2014 Feb 12.
    Genetica Medica Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy.
    Rothmund-Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities and cancer predisposition. Mutations predicted to result in the loss of RECQL4 protein have been associated with osteosarcoma risk, but mutation(s)-phenotype correlations are better addressed by combined DNA and RNA analyses. We describe two siblings with a mild phenotype, mainly restricted to the skin, who carry the unreported paternal c. Read More

    Genetic alterations in syndromes with oral manifestations.
    Dent Res J (Isfahan) 2013 Nov;10(6):713-22
    Department of Oral and Maxillofacial Pathology, College of Dental Surgery, Saveetha University, Chennai, Tamil Nadu, India.
    Ever since Gregor Johan Mendel proposed the law of inheritance, genetics has transcended the field of health and has entered all walks of life in its application. Thus, the gene is the pivoting factor for all happenings revolving around it. Knowledge of gene mapping in various diseases would be a valuable tool in prenatally diagnosing the condition and averting the future disability and stigma for the posterity. Read More

    Oral findings of rothmund-thomson syndrome.
    Case Rep Dent 2013 30;2013:935716. Epub 2013 Nov 30.
    Department of Pediatric Dentistry, Faculty of Dentistry, Ondokuz Mayis University, 55139 Samsun, Turkey.
    Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. It has an autosomal, recessive inheritance and its signs begin at childhood. Essential dermatological alteration is poikilodermatosis. Read More

    Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
    Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.
    Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.
    Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. Read More

    Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.
    J Invest Dermatol 2014 Apr 24;134(4):1152-4. Epub 2013 Oct 24.
    1] Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain [2] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.

    RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome.
    Carcinogenesis 2014 Jan 25;35(1):34-45. Epub 2013 Sep 25.
    National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110067, India and.
    Unlabelled: Germline mutations in RECQL4 and p53 lead to cancer predisposition syndromes, Rothmund-Thomson syndrome (RTS) and Li-Fraumeni syndrome (LFS), respectively. RECQL4 is essential for the transport of p53 to the mitochondria under unstressed conditions. Here, we show that both RECQL4 and p53 interact with mitochondrial polymerase (PolγA/B2) and regulate its binding to the mitochondrial DNA (mtDNA) control region (D-loop). Read More

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