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International Journal of Dermatology Apr 1990
Topics: Bloom Syndrome; Cohort Studies; Humans; New York City; Registries
PubMed: 2335424
DOI: 10.1111/j.1365-4362.1990.tb03815.x -
Cancer Letters May 2006Bloom syndrome (BS) displays one of the strongest known correlations between chromosomal instability and an increased risk of malignancy at an early age. The prevention... (Review)
Review
Bloom syndrome (BS) displays one of the strongest known correlations between chromosomal instability and an increased risk of malignancy at an early age. The prevention of genomic instability and cancer depends on a complex network of pathways induced in response to DNA damage and stalled replication forks, including cell-cycle checkpoints, DNA repair, and apoptosis. Several studies have demonstrated that BLM is involved in the cellular response to DNA damage and stalled replication forks. BLM interacts physically and functionally with several proteins involved in the maintenance of genome integrity and BLM is redistributed and/or phosphorylated in response to several genotoxic stresses. The data concerning the relationship between BLM and these cellular pathways are summarized and the role of BLM in the rescue of arrested replication forks is discussed. Moreover, I speculate that BLM deficiency is lethal, and that BLM-deficient cells escaping apoptotic death do so by constitutively inducing a bacterial SOS-like response including the induction of alternative replication pathway(s) dependent on recombination, contributing to the mutator and hyper-Rec phenotypes characteristic of BS cells. This mechanism may be dependent on the RAD51 gene family, and involved in carcinogenesis in the general population.
Topics: Adenosine Triphosphatases; Animals; Apoptosis; Bloom Syndrome; Cell Cycle; DNA Helicases; Genetic Predisposition to Disease; Genomic Instability; Humans; Mutation; Neoplasms; RecQ Helicases; SOS Response, Genetics; Sister Chromatid Exchange
PubMed: 15950375
DOI: 10.1016/j.canlet.2005.04.023 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Adenosine Triphosphatases; Bloom Syndrome; DNA Helicases; DNA Repair; Disease Susceptibility; Humans; Infections; Mutation; Neoplasms; RecQ Helicases
PubMed: 11212711
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 1998
Review
Topics: Bloom Syndrome; Chromosome Aberrations; Female; Humans; Male; Prognosis; Sister Chromatid Exchange
PubMed: 9833485
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 2001
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Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Adenosine Triphosphatases; Bloom Syndrome; Chromosomes, Human, Pair 15; DNA Helicases; DNA Repair; Diagnosis, Differential; Humans; Prognosis; RecQ Helicases; Sister Chromatid Exchange
PubMed: 11057173
DOI: No ID Found -
Clinical Dysmorphology Apr 2023
Topics: Child; Humans; Bloom Syndrome; Lung
PubMed: 36876347
DOI: 10.1097/MCD.0000000000000448 -
BMJ Case Reports Oct 2020We report a case of a 5-year-old boy presenting to us with short stature. He was born of consanguineous parentage and was small for gestational age. He had severe short...
We report a case of a 5-year-old boy presenting to us with short stature. He was born of consanguineous parentage and was small for gestational age. He had severe short stature, with height Z score of -6.2 SD Score, markedly delayed skeletal age, low level of insulin-like growth factor 1, unstimulated growth hormone and hypoplastic anterior pituitary gland on MRI. He was advised growth hormone (GH) replacement at 2 years of age, but he did not receive it . Later on, he developed photosensitive telangiectatic lesions over face and required multiple hospital admissions for recurrent systemic infections. Genetic analysis confirmed the diagnosis of Bloom's syndrome. The present case report illustrates the need for high vigilance for conditions like Bloom's syndrome in growth hormone deficiency (GHD), in whom GH treatment could potentially be harmful. Bloom's syndrome with GHD is an exceedingly rare association.
Topics: Abnormalities, Multiple; Biomarkers; Bloom Syndrome; Brain; Child, Preschool; Dwarfism, Pituitary; Human Growth Hormone; Humans; Magnetic Resonance Imaging; Male; Rare Diseases
PubMed: 33122222
DOI: 10.1136/bcr-2020-235238 -
Biochemical Society Transactions Dec 2005The RecQ family of DNA helicases is highly conserved in evolution from bacteria to humans. Of the five known human RecQ family members, three (BLM, WRN and RECQ4, which... (Review)
Review
The RecQ family of DNA helicases is highly conserved in evolution from bacteria to humans. Of the five known human RecQ family members, three (BLM, WRN and RECQ4, which cause Bloom's syndrome, Werner's syndrome and Rothmund-Thomson syndrome respectively) are mutated in distinct clinical disorders associated with cancer predisposition and/or premature aging. BLM forms part of a multienzyme complex including topoisomerase IIIalpha, replication protein A and a newly identified factor called BLAP75. Together, these proteins play a role in the resolution of DNA structures that arise during the process of homologous recombination repair. In the absence of BLM, cells show genomic instability and a high incidence of sister-chromatid exchanges. In addition to a DNA structure-specific helicase activity, BLM also catalyses Holliday-junction branch migration and the annealing of complementary single-stranded DNA molecules.
Topics: Adenosine Triphosphatases; Bloom Syndrome; DNA Helicases; DNA, Cruciform; DNA, Single-Stranded; Exodeoxyribonucleases; Genomic Instability; Humans; Nucleic Acid Conformation; RecQ Helicases; Recombination, Genetic; Werner Syndrome; Werner Syndrome Helicase
PubMed: 16246145
DOI: 10.1042/BST0331456 -
Cold Spring Harbor Molecular Case... Apr 2021Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability,...
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors are reported as well. Bloom syndrome occurs in multiple ethnic groups with a higher incidence in persons of Ashkenazi Jewish origin. Few patients of Hispanic ethnicity have been reported. We report here a Mexican American family with a pathogenic variant, c.2506_2507delAG, previously reported in a single patient from Mexico. In this family of four siblings, three have phenotypic features of Bloom syndrome, and gene mutation was homozygous in these affected individuals. Our proband developed a rhabdomyosarcoma. Analysis of surrounding markers in the germline DNA revealed a common haplotype, suggesting a previously unrecognized founder mutation in the Hispanic population of Mexican origin.
Topics: Alleles; Bloom Syndrome; Child, Preschool; Genetic Predisposition to Disease; Homozygote; Humans; Male; Mexican Americans; Mexico; Mutation; Pedigree; Polymorphism, Single Nucleotide; RecQ Helicases; Rhabdomyosarcoma
PubMed: 33832920
DOI: 10.1101/mcs.a005751