733 results match your criteria Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

Pediatr Int 2022 Jan;64(1):e15120

Department of Endocrinology, Hematology, and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

Background: Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma of the face, small stature, sparse scalp hair, juvenile cataract, radial aplasia, and predisposition to cancers. Due to the rarity of RTS, the situation of patients with RTS in Japan has not been elucidated.

Methods: In 2010 and 2020, following the results of a primary questionnaire survey, a secondary questionnaire survey on RTS was conducted nationwide to investigate the number of RTS cases and their associated skin lesions, bone lesions, other clinical features, and quality of life in Japan. Read More

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January 2022

Bloom syndrome helicase contributes to germ line development and longevity in zebrafish.

Cell Death Dis 2022 Apr 18;13(4):363. Epub 2022 Apr 18.

Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary.

RecQ helicases-also known as the "guardians of the genome"-play crucial roles in genome integrity maintenance through their involvement in various DNA metabolic pathways. Aside from being conserved from bacteria to vertebrates, their importance is also reflected in the fact that in humans impaired function of multiple RecQ helicase orthologs are known to cause severe sets of problems, including Bloom, Werner, or Rothmund-Thomson syndromes. Our aim was to create and characterize a zebrafish (Danio rerio) disease model for Bloom syndrome, a recessive autosomal disorder. Read More

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Cancer risk among RECQL4 heterozygotes.

Cancer Genet 2022 04 9;262-263:107-110. Epub 2022 Feb 9.

Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States. Electronic address:

Rothmund-Thomson syndrome (RTS) is an autosomal recessive cancer-predisposition disorder characterized by the presence of a wide range of clinical features including poikiloderma, sparse hair, growth deficiency, cataracts, and skeletal abnormalities. Importantly, two-thirds of individuals with RTS have a significant risk of developing osteosarcoma due to the presence of biallelic pathogenic variants in RECQL4, a critical gene involved in DNA repair and replication. It is unknown whether individuals who are heterozygous for a RECQL4 pathogenic variant also have an increased risk of cancer. Read More

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Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.

Bol Med Hosp Infant Mex 2022 ;79(1):56-61

Departamento de Dermatopatología, Hospital General Dr. Manuel Gea González. Mexico City, Mexico.

Background: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level.

Case Reports: Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. Read More

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Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.

PLoS Genet 2021 12 29;17(12):e1009971. Epub 2021 Dec 29.

Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America.

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 pathogenic variants have multiple skeletal anomalies and a significantly increased incidence of osteosarcoma. Here, we generated RTS patient-derived induced pluripotent stem cells (iPSCs) to dissect the pathological signaling leading to RTS patient-associated osteosarcoma. Read More

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December 2021

[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Jan;39(1):31-34

Department of Endocrinology, The Affiliated Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang 310052, China.

Objective: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS).

Methods: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Read More

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January 2022

Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Front Mol Biosci 2021 18;8:791194. Epub 2021 Nov 18.

Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope, Duarte, CA, United States.

The human gene encodes an ATP-dependent DNA helicase that contains a conserved superfamily II helicase domain located at the center of the polypeptide. RECQ4 is one of the five RECQ homologs in human cells, and its helicase domain is flanked by the unique amino and carboxyl termini with sequences distinct from other members of the RECQ helicases. Since the identification of the gene in 1998, multiple RECQ4 mutations have been linked to the pathogenesis of three clinical diseases, which are Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO. Read More

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November 2021

Clinical approach to a child with poikiloderma: A case report.

Clin Case Rep 2021 Oct 17;9(10):e04977. Epub 2021 Oct 17.

Department of Dermatology and Venereology B.P. Koirala Institute of Health Sciences Dharan Nepal.

There are various causes of childhood poikiloderma. A proper history and clinical examination may help to get conclusion and narrow down the differentials for the causes of poikiloderma. Read More

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October 2021

[Rothmund-Thomson syndrome].


Nihon Ronen Igakkai Zasshi 2021;58(3):413-416

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September 2021

Human RecQL4 as a Novel Molecular Target for Cancer Therapy.

Cytogenet Genome Res 2021 2;161(6-7):305-327. Epub 2021 Sep 2.

Cytogenetic Biodosimetry Laboratory, Radiation Emergency Assistance Center/Training Site, Oak Ridge Institute for Science and Education, Oak Ridge Associated Universities, Oak Ridge, Tennessee, USA.

Human RecQ helicases play diverse roles in the maintenance of genomic stability. Inactivating mutations in 3 of the 5 human RecQ helicases are responsible for the pathogenesis of Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome (BGS). WS, BS, and RTS patients are at increased risk for developing many age-associated diseases including cancer. Read More

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October 2021

Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity.

J Biol Chem 2021 10 30;297(4):101148. Epub 2021 Aug 30.

Interdisciplinary Graduate Program in Genetic Engineering, Seoul National University, Seoul, Korea; Department of Biology Education, Seoul National University, Seoul, Korea. Electronic address:

The proper cellular response to DNA double-strand breaks (DSBs) is critical for maintaining the integrity of the genome. RecQL4, a DNA helicase of which mutations are associated with Rothmund-Thomson syndrome (RTS), is required for the DNA DSB response. However, the mechanism by which RecQL4 performs these essential roles in the DSB response remains unknown. Read More

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October 2021

Type I Interferon Induction in Cutaneous DNA Damage Syndromes.

Front Immunol 2021 23;12:715723. Epub 2021 Jul 23.

Department of Dermatology, University Hospital and Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Type I interferons (IFNs) as part of the innate immune system have an outstanding importance as antiviral defense cytokines that stimulate innate and adaptive immune responses. Upon sensing of pattern recognition particles (PRPs) such as nucleic acids, IFN secretion is activated and induces the expression of interferon stimulated genes (ISGs). Uncontrolled constitutive activation of the type I IFN system can lead to autoinflammation and autoimmunity, which is observed in autoimmune disorders such as systemic lupus erythematodes and in monogenic interferonopathies. Read More

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December 2021

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.

Genet Mol Biol 2021 6;44(3):e20200332. Epub 2021 Aug 6.

IRCCS Istituto Auxologico Italiano, Laboratorio di Citogenetica e Genetica Molecolare Umana, Milan, Italy.

Two Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their clinical phenotype, the suggestive matching with the autosomal dominant syndrome Poikiloderma, Hereditary Fibrosing with Tendon Contracture, Myopathy and Pulmonary fibrosis (POIKTMP) was confirmed by identification of the c.1879A>G (p. Read More

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Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.

J Dermatol 2021 Oct 22;48(10):1511-1517. Epub 2021 Jun 22.

Department of Dermatology, Shunyi Maternal and Children's Hospital of Beijing Children's Hospital, Beijing, China.

Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in ANAPC1 or RECQL4 have been identified to underlie RTS. Either Sanger sequencing or next-generation sequencing (NGS) was performed for three Chinese RTS patients. Read More

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October 2021

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

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

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

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

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Inherited skin disorders presenting with poikiloderma.

Int J Dermatol 2021 Nov 19;60(11):1343-1353. Epub 2021 Mar 19.

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

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

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November 2021

Human RecQ Helicases in DNA Double-Strand Break Repair.

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

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

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

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February 2021

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

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

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

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Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.

Skin Health Dis 2021 Mar 12;1(1):e12. Epub 2021 Feb 12.

Department of Dermatology Faculty of Medicine University of Freiburg Freiburg Germany.

Background: Rare syndromic skin disorders may represent a diagnostic challenge.

Aims: We report a unique case associating cutaneous manifestations and developmental delay.

Materials & Methods: The affected 14 months old boy had poikiloderma, facial dysmorphism with deep-set eyes, atrichia, as well as nail dysplasia and non-descended testes. Read More

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

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

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

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

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January 2021

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

J Clin Immunol 2021 05 18;41(4):748-755. Epub 2021 Jan 18.

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

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

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

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

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

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

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

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December 2020

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

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

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

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

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December 2020

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

J Invest Dermatol 2021 04 19;141(4S):968-975. Epub 2021 Jan 19.

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

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

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

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

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

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

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December 2020

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

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

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

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January 2021

Synthetic Lethal Interactions of RECQ Helicases.

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

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

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

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February 2021

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

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

Hospital Gregorio Marañon, Madrid, España.

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

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RECQ DNA Helicases and Osteosarcoma.

Adv Exp Med Biol 2020 ;1258:37-54

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

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

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December 2020