752 results match your criteria: "Rothmund-Thomson Syndrome"
Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.
Am J Med Genet A
September 2024
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Article Synopsis
- - Baller-Gerold syndrome, RAPADILINO syndrome, and Rothmund-Thomson syndrome, which are linked to mutations in the RECQL4 gene, exhibit autosomal recessive inheritance and are often identified in infants and children.
- - Recent findings revealed two fetuses with severe structural abnormalities caused by biallelic RECQL4 variants during the perinatal period, such as underdeveloped forearms and legs, and one case involving significant lung issues.
- - One fetus tragically died due to respiratory failure, while the other pregnancy was terminated; the variants were confirmed through genetic sequencing techniques.
Atypical presentations of RECQL4-related syndromes.
Pediatr Blood Cancer
December 2024
Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Article Synopsis
- * Diagnosis often relies on specific clinical features, but atypical presentations can lead to missed or delayed diagnoses, as seen in the five patients described.
- * Three patients with these atypical presentations developed osteosarcoma, emphasizing the need for vigilance in recognizing unusual signs of Rothmund-Thomson syndrome to ensure timely cancer monitoring.
Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.
Int J Mol Sci
August 2024
Genetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.
Article Synopsis
- * It explores the relationship between nuclear pore complex (NPC) components and caretakers in genome instability syndromes, focusing on how defects in these caretakers affect NPC architecture in Werner syndrome and Hereditary Fibrosing Poikiloderma.
- * The review highlights the connection between damage sensors from both syndromes and the NPC, emphasizing their role in maintaining telomere length and restoring DNA damage at the nuclear periphery.
Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Clin Cancer Res
November 2024
Division of Solid Tumor and Clinical Genetics, Department of Medicine and Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.
Article Synopsis
- Genomic instability disorders involve DNA or chromosomal issues that can lead to developmental problems, immunodeficiency, and a higher likelihood of childhood cancers, along with extreme sensitivity to cancer treatments.
- The American Association of Cancer Research held a workshop in July 2023, where experts discussed updated guidelines for managing and monitoring children at risk for cancer due to these disorders.
- The article emphasizes the need to identify children with genomic instability disorders for accurate diagnosis, genetic counseling, and informed decisions regarding cancer screening and treatment options.
A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.
Clin Case Rep
August 2024
Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.
Article Synopsis
- The study focuses on a family with nine children, where two have been confirmed to have RTS2 through genetic testing, while others show potential symptoms of the syndrome.
- It emphasizes the need for healthcare professionals to be vigilant about rare syndromes when diagnosing and treating patients.
- The timely application of genetic counseling and testing could have helped prevent additional births of affected children, highlighting the critical role of genetic testing in managing the risks associated with RTS2, including severe conditions like osteosarcoma.
Skin cancer-associated genodermatoses in skin of color patients: a review.
Arch Dermatol Res
May 2024
Tufts Medical Center, 800 Washington St, Boston, MA, 02111, USA.
Article Synopsis
- Skin cancers often relate to various genodermatoses, but current knowledge primarily reflects presentations in White patients, lacking sufficient focus on skin-of-color (SOC) individuals.
- The study analyzed 381 articles involving 578 SOC patients to uncover notable differences in the manifestation of skin cancer-related findings and age of onset based on genodermatoses.
- Findings indicated SOC patients may display fewer classic signs of conditions like Gorlin syndrome and experience varying onset ages for skin cancers, highlighting the need for improved awareness to enhance early diagnosis and treatment.
DONSON: Slding in 2 the limelight.
DNA Repair (Amst)
February 2024
Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. Electronic address:
Article Synopsis
- Yeast proteins Sld2, Dpb11, GINS, and Polε assemble into a pre-loading complex (pre-LC) for DNA replication, recruited by the Sld3/Sld7 heterodimer in a phospho-dependent manner.
- There has been debate over the identity of the Sld2 ortholog in vertebrates, initially thought to be RECQL4, but evidence does not support its essential role in CMG loading.
- Recent research indicates that DONSON, involved in various neurodevelopmental disorders, is the functional ortholog of Sld2, showcasing its critical role in DNA replication initiation and stability during elongation.
A Chinese patient with Rothmund-Thomson syndrome.
Mol Genet Genomic Med
January 2024
Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China.
Article Synopsis
- Rothmund-Thomson syndrome (RTS) is a rare genetic disorder caused by mutations in the RECQL4 gene and can affect individuals from various ethnic backgrounds, potentially leading to low birth weight in fetuses.
- Researchers conducted whole-genome sequencing on a patient and their parents, identifying two significant mutations in the RECQL4 gene that are linked to RTS.
- The findings not only expand understanding of RECQL4 mutations in RTS patients but also provide valuable information for the patient's family regarding future pregnancies and prenatal testing options.
Rothmund-Thomson syndrome, a disorder far from solved.
Front Aging
November 2023
Genomic Stability Unit, Department of Biochemistry, Institute of Chemistry, University of São Paulo, São Paulo, Brazil.
Article Synopsis
- * It is usually linked to mutations in a specific gene related to DNA repair, but scientists have found other genes that might also be involved.
- * The study looks at RTS symptoms, the genes that cause the disorder, and aims to find new ways to understand and research this complex condition.
Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
J Biol Chem
September 2023
Signal Transduction Laboratory, National Institute of Immunology, New Delhi, India; National Institute of Biomedical Genomics, Kalyani, India. Electronic address:
Article Synopsis
- Mutations in RECQL4 cause Rothmund-Thomson syndrome (RTS), which leads to mitochondrial dysfunction, premature aging, and genomic instability, but the exact mechanisms are not fully understood.
- RECQL4 is modified by MITOL, a mitochondrial E3 ligase, which prevents its entry into mitochondria, impairing mitochondrial DNA replication.
- In RTS patient mutants, RECQL4 is hyperubiquitylated, forming aggregates and hindering mtDNA replication, but reducing MITOL levels allows RECQL4 to enter mitochondria and improve replication, suggesting a potential therapeutic approach.
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic variants.
Blood Sci
April 2023
National Research Center for Translational Medicine, State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Article Synopsis
- Rothmund-Thomson syndrome (RTS) is a rare genetic condition that can cause symptoms like rashes, short height, eye problems, and an increased risk of cancer.
- A study of a Chinese family with RTS found that one member had a blood disorder called myelodysplastic syndrome (MDS), and researchers used special tests to understand the genetic changes involved.
- They discovered three new genetic changes that might be linked to MDS, helping to explain how RTS can lead to this serious condition.
Biallelic variants in cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
November 2023
Departamento de Genética e Biologia Evolutiva do Instituto de Biociências, Universidade de São Paulo, Sao Paulo, Brazil
Article Synopsis
- Rothmund-Thomson syndrome (RTS) is a rare genetic skin disorder characterized by poikiloderma and divided into two types based on genetic variations and symptoms.
- A study of Brazilian individuals and European siblings with RTS revealed severe short stature, widespread poikiloderma, and congenital eye problems, linked to specific gene mutations affecting DNA repair.
- The findings suggest a shared genetic background due to a founder effect and propose that the mutations may lead to distinct clinical characteristics, broadening the understanding of RTS symptoms.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
July 2023
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address:
Article Synopsis
- Rothmund-Thomson syndrome (RTS) is a disorder marked by symptoms like skin changes, short stature, and an increased risk of cancer, primarily linked to mutations in the RECQL4 and ANAPC1 genes; this study identifies RTS-like characteristics in five individuals with CRIPT gene variants.
- The research method involved comparing these individuals with known RTS cases through clinical assessments, photographic analysis, and skin biopsy studies, revealing significant similarities and additional neurological issues like developmental delays and seizures in CRIPT patients.
- Findings indicated CRIPT mutations contribute to an RTS-like condition highlighting increased cellular senescence, suggesting overlapping biological mechanisms between CRIPT and RECQL4-related syndromes.
DNA replication initiation factor RECQ4 possesses a role in antagonizing DNA replication initiation.
Nat Commun
March 2023
Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope, Duarte, CA, 91010-3000, USA.
Article Synopsis
- Deleting the C-terminus part of the RECQ4 helicase can lead to cancer!
- The N-terminus of RECQ4 helps start DNA replication and interacts with a protein complex that promotes cell division!
- The C-terminus normally keeps the N-terminus in check, but without it, DNA replication can go out of control, leading to problems like too much DNA in the cells!
Germline Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
February 2023
Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
Article Synopsis
- Two siblings with symptoms resembling Rothmund-Thomson syndrome, including fragile hair and cataracts, were investigated genetically due to their shared ancestry as children of first cousins.
- Whole exome sequencing identified significant variations in the nucleoporin 98 (NUP98) gene, particularly one variant that suggested higher pathogenicity and potential alteration of protein function.
- The mutations potentially disrupt the normal behavior of the NUP98 protein, which could affect its role in cellular processes, revealing a new constitutional disorder linked to NUP98 and its relation to cancer.
Extensive blaschkoid macules and patches since birth.
JAAD Case Rep
January 2023
Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
Am J Med Genet A
January 2023
Pediatric Endocrinology Unit, Department of Pediatrics, Hospital de Santa Maria - Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.
Article Synopsis
- Rothmund-Thomson syndrome (RTS) is a rare genetic disorder with symptoms like a progressive rash, sparse hair, short stature, and an increased cancer risk, particularly for osteosarcoma and skin cancer.
- It is caused by mutations in the ANAPC1 or RECQL4 genes, with two types identified based on the gene affected.
- A case study is presented of an African girl with Type 2 RTS who had unique symptoms of precocious puberty and anal stenosis, emphasizing the importance of identifying deep intronic variants when typical mutations are absent.
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Fam Cancer
January 2023
Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain.
Article Synopsis
- Rothmund-Thomson syndrome is a rare genetic disorder that increases cancer susceptibility and is inherited in an autosomal recessive manner, with only about 400 reported cases so far.
- A case study details a 55-year-old male who was misdiagnosed with Bloom Syndrome in childhood but was later found to have mutations in the RECQL4 gene, which is linked to Rothmund-Thomson syndrome.
- The patient developed and was successfully treated for calcaneal osteosarcoma and is currently free of oncological disease for three years.
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Pediatr Int
January 2022
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.
Bloom syndrome helicase contributes to germ line development and longevity in zebrafish.
Cell Death Dis
April 2022
Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary.
Article Synopsis
- * The study aimed to create a zebrafish model for Bloom syndrome, a genetic disorder that leads to various health issues, including reduced lifespan and fertility due to genomic instability.
- * The zebrafish mutants exhibiting traits of Bloom syndrome show that Blm protein is crucial for DNA repair and affects germ line development and sex differentiation, providing a new avenue for studying the disease's molecular mechanisms.
Cancer risk among RECQL4 heterozygotes.
Cancer Genet
April 2022
Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States. Electronic address:
Article Synopsis
- - Rothmund-Thomson syndrome (RTS) is a genetic disorder with various symptoms like skin changes, hair loss, growth issues, cataracts, and bone abnormalities, and it significantly increases the risk of osteosarcoma due to mutations in the RECQL4 gene.
- - A study analyzing 123 family members of RTS patients who carry one copy of the RECQL4 variant found a cancer prevalence of 2.4%, which is not significantly different from the general population's rate of 5.6%.
- - These results are important for clinicians providing advice to RTS families, as they suggest that being a heterozygous carrier of a RECQL4 mutation may not greatly increase cancer risk compared to the general
Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.
Bol Med Hosp Infant Mex
May 2022
Departamento de Dermatopatología, Hospital General Dr. Manuel Gea González. Mexico City, Mexico.
Article Synopsis
- Rothmund-Thomson syndrome is a rare genetic skin condition that arises in early childhood, impacting multiple body systems and characterized by symptoms like skin changes and growth issues.
- The case reports detail a 4-year-old boy with several congenital abnormalities and a confirmed genetic mutation, and a 2-year-old girl with facial skin lesions but without genetic testing.
- The document highlights the importance of multidisciplinary care for affected individuals and notes the limited number of reported cases in existing literature.
Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
PLoS Genet
December 2021
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.
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