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Frontiers in Endocrinology 2021Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported...
Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of variants.
Topics: Bloom Syndrome; Diabetes Mellitus, Type 1; Humans; Male; Mutation; RecQ Helicases; Young Adult
PubMed: 34177791
DOI: 10.3389/fendo.2021.524242 -
Ryoikibetsu Shokogun Shirizu 1998
Review
Topics: Bloom Syndrome; DNA Damage; DNA Helicases; DNA Repair; DNA Replication; Diagnosis, Differential; Humans; Mutation; Prognosis; Sister Chromatid Exchange; Ultraviolet Rays
PubMed: 9590112
DOI: No ID Found -
Nature Reviews. Disease Primers Sep 2019Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage)... (Review)
Review
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders. Each disorder has its own pattern of chromosomal damage, with cells from these patients being hypersensitive to particular genotoxic drugs, indicating that the underlying defect in each case is likely to be different. In addition, each syndrome shows a predisposition to cancer. Study of the molecular and genetic basis of these disorders has revealed mechanisms of recognition and repair of DNA double-strand breaks, DNA interstrand crosslinks and DNA damage during DNA replication. Specialist clinics for each disorder have provided the concentration of expertise needed to tackle their characteristic clinical problems and improve outcomes. Although some treatments of the consequences of a disorder may be possible, for example, haematopoietic stem cell transplantation in FA and NBS, future early intervention to prevent complications of disease will depend on a greater understanding of the roles of the affected DNA repair pathways in development. An important realization has been the predisposition to cancer in carriers of some of these gene mutations.
Topics: Ataxia Telangiectasia; Bloom Syndrome; DNA Damage; DNA Repair-Deficiency Disorders; Fanconi Anemia; Humans; Nijmegen Breakage Syndrome
PubMed: 31537806
DOI: 10.1038/s41572-019-0113-0 -
Seminars in Hematology Apr 1991
Review
Topics: Ataxia Telangiectasia; Bloom Syndrome; Chromosome Aberrations; Chromosome Disorders; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 1876866
DOI: No ID Found -
BMJ Case Reports Jan 2016A 17-year-old Indian man was diagnosed with Bloom's syndrome at the age of 3 years. This is the first reported case of Bloom's in an Indian from the UK and the third...
A 17-year-old Indian man was diagnosed with Bloom's syndrome at the age of 3 years. This is the first reported case of Bloom's in an Indian from the UK and the third case report from the British Isles. Bloom's is typically characterised by short stature, photosensitivity, telangiectatic erythema, learning difficulties, immunodeficiency and malignancy. He was born below the 0.4th centile and failed to gain weight as an infant. He presented in clinic with short stature, prominent facial features and hyperpigmented skin patches, which are all defining characteristics of Bloom's syndrome. Other case reports have documented early neoplasms, photosensitivity and learning difficulties in these patients; however, our patient is different, and currently attends a mainstream college, demonstrating little difficulty in coping with the work. To date, he has not presented with any malignancy or characteristic malar rash.
Topics: Adolescent; Bloom Syndrome; Diagnosis, Differential; Dwarfism; Humans; India; Male; United Kingdom
PubMed: 26733430
DOI: 10.1136/bcr-2015-212297 -
European Journal of Medical Genetics Oct 2021Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and a...
Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and a strong predisposition to different types of malignancies. Treatment of malignancies in BS patients with radiotherapy or chemotherapy is believed to be associated with increased toxicity, but clinical and laboratory data are lacking. We collected clinical data of two Dutch BS patients with solid tumors. Both were treated with radiotherapy before the diagnosis BS was made and tolerated this treatment well. In addition, we collected fibroblasts from BS patients to perform in vitro clonogenic survival assays to determine radiosensitivity. BS fibroblasts showed less radiosensitivity than the severely radiosensitive Artemis fibroblasts. Moreover, studies of double strand break kinetics by counting 53BP1 foci after irradiation showed similar patterns compared to healthy controls. In combination, the clinical cases and laboratory experiments are valuable information in the discussion whether radiotherapy is absolutely contraindicated in BS, which is the Case in other DNA repair syndromes like Ataxia Telangiectasia and Artemis.
Topics: Adult; Bloom Syndrome; Carcinoma; Cells, Cultured; DNA Breaks, Double-Stranded; DNA Repair; Female; Fibroblasts; Humans; Male; Middle Aged; Radiation Tolerance; Radiotherapy; RecQ Helicases
PubMed: 34352413
DOI: 10.1016/j.ejmg.2021.104293 -
Familial Cancer Jan 2022Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical...
Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c.2207_2212delinsTAGATTC). This is the first report of IFS related to BS, for which we show that both BLM alleles are maintained in the tumor and demonstrate a TPM3-NTKR1 fusion transcript in the IFS. Our communication emphasizes the importance of long-term follow up after treatment for pediatric neoplastic conditions, as clues to important genetic entities might manifest later, and the identification of a heritable tumor predisposition often leads to changes in patient surveillance and management.
Topics: Alleles; Bloom Syndrome; Child; Fibrosarcoma; Genetic Predisposition to Disease; Genotype; Humans; Infant; Male; RecQ Helicases; Tropomyosin
PubMed: 33219493
DOI: 10.1007/s10689-020-00221-1 -
American Journal of Medical Genetics.... Sep 2018Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and...
Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility.
Topics: Bloom Syndrome; Child; Child Development; Child, Preschool; Delivery of Health Care; Disease Management; Female; Health Planning Guidelines; History, 20th Century; History, 21st Century; Humans; Incidence; Intelligence; Male; Neoplasms; Nutritional Status; Phenotype; Public Health Surveillance; Registries
PubMed: 30055079
DOI: 10.1002/ajmg.a.40374 -
Familial Cancer Jan 2023Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date,...
Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date, only 400 cases have been reported in the literature, and the severity of the features varies among individuals with the condition. Here, we describe a 55-year-old male who had been diagnosed with Bloom Syndrome during childhood due to the suggestive physical features such as short stature, chronic facial erythema, poikiloderma in face and extremities, microtia and microcephaly. However, the genetic test demonstrated that the patient carried two pathogenic variants resulting in compound heterozygous in the RECQL4 gene (c.2269C>T and c.2547_2548delGT). He subsequently developed a calcaneal osteosarcoma, which was successfully treated, and has currently been oncologic disease-free for 3 years.
Topics: Male; Humans; Middle Aged; Rothmund-Thomson Syndrome; RecQ Helicases; Bloom Syndrome
PubMed: 35781852
DOI: 10.1007/s10689-022-00303-2 -
Pediatric Dermatology 2010Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of...
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
Topics: Bloom Syndrome; Child; Cryptorchidism; Exanthema; Failure to Thrive; Humans; Male; Photosensitivity Disorders; Siblings; Sister Chromatid Exchange
PubMed: 20537070
DOI: 10.1111/j.1525-1470.2010.01101.x