Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
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منابع مشابه
Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
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 ...
متن کاملAssociation between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
BACKGROUND Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predi...
متن کاملThe Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
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 linea...
متن کاملErratum p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization
Introduction Genome instability plays a major role in the development and progression of cancer. All organisms have developed pathways to mitigate DNA damage by employing enzymes that are involved in all DNA metabolic processes, including replication, recombination and repair (Tuteja and Tuteja, 2001). The fundamental importance of these enzymes, such as DNA helicases and acetyltransferases, is...
متن کاملp300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization.
RECQL4 belongs to the conserved RecQ family of DNA helicases, members of which play important roles in the maintenance of genome stability in all organisms that have been examined. Although genetic alterations in the RECQL4 gene are reported to be associated with three autosomal recessive disorders (Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes), the molecular role of RECQL4 still re...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2016
ISSN: 2324-9269
DOI: 10.1002/mgg3.209