POLD1Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
نویسندگان
چکیده
منابع مشابه
Syndrome-causing mutations in Werner syndrome.
Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of age-related diseases including diabetes mellitus (DM), osteoporosis, atherosclerosis, and malignancy as well as early death. In 1,420 patients, WS was reported to be associated with chromosomal abnormality syndrome and other genetic disea...
متن کاملThe spectrum of WRN mutations in Werner syndrome patients.
The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not pr...
متن کاملSubsequent malignant neoplasms in pediatric patients initially diagnosed with neuroblastoma.
BACKGROUND Most prior studies evaluating subsequent malignant neoplasms (SMNs) in patients with neuroblastoma are restricted to long-term survivors and/or their treatment exposures. This study investigates SMNs in patients diagnosed with neuroblastoma at our institution. METHODS Records of 646 patients treated for neuroblastoma at St Jude Children's Research Hospital between 1961 and 2005 wer...
متن کاملAn autoimmune lymphoproliferative syndrome initially diagnosed as Evans syndrome.
Autoimmune lymphoproliferative syndrome (ALPS) is a rare childhood disorder characterized by chronic non-malignant lymphoproliferation and autoimmunity. Patients with ALPS frequently exhibit episodic and intermittent, severe autoimmune- induced hemolytic anemia, thrombocytopenia or combined cytopenias. The co-occurrence of immune-mediated cytopenias, autoimmune thrombocytopenia and autoimmune h...
متن کاملWerner syndrome with psychosis.
Werner syndrome is a premature senility syndrome that manifests a variety of ageing symptoms starting from puberty. Approximately 10% of patients demonstrate low IQ. Reports regarding psychotic symptoms in Werner syndrome are rare. Here we report a case of Werner syndrome with flourishing psychotic symptoms. The patient was a 55-year-old unmarried woman. She was referred due to psychomotor exci...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2015
ISSN: 1059-7794
DOI: 10.1002/humu.22833