What type of mutation is werner syndrome

Should I consider genetic testing? The Genetics of Cancer. Genetic Testing. Collecting Your Family Cancer History. National Organization for Rare Disorders.

National Society of Genetic Counselors. Werner Syndrome Approved by the Cancer. What is Werner syndrome? What causes Werner syndrome? How is Werner syndrome inherited? How common is Werner syndrome? How is Werner syndrome diagnosed? Common features of Werner syndrome diagnosed after age 10 : Cataracts in both eyes Skin changes associated with aging, such as wrinkling, thinning, tightnening, ulcers, dryness, discoloration, bruising Characteristic facial features, including wrinkling and loss of muscle tone Short height Early graying or thinning of the hair Family history of Werner syndrome Positive hour urine hyaluronic acid test Other features seen in Werner syndrome: Type 2 diabetes Problems with fertility the ability to have a child Osteoporosis Cancers Bone changes in the fingers and toes Tissue changes Early atherosclerosis, meaning plaque buildup in arteries Hoarse or high-pitched voice Flat feet and thin limbs Guidelines for the diagnosis of Werner syndrome have been proposed but may change over time as more is learned about this condition.

What are the estimated cancer risks associated with Werner syndrome? What are the screening options for Werner syndrome? Suggested screenings for people diagnosed with Werner syndrome include: Yearly screening for type 2 diabetes Yearly lipid profile using a blood test Yearly eye examination to look for signs of cataracts Yearly physical exam with specific attention to heart health and dermatologic skin examinations to screen for cancers associated with Werner syndrome People with Werner syndrome should also avoid smoking and physical trauma, be physically active, and maintain a healthy weight to help decrease the risk of heart disease and other age-related conditions.

Questions to ask the health care team If you are concerned about your risk of cancer, talk with your health care team. Consider asking your health care team the following questions: What is my risk of cancer? What can I do to reduce my risk of cancer? What are my options for cancer screening?

If you are concerned about your family history and think you or other family members may have Werner syndrome, consider asking the following questions: Does my family history increase my risk of cancer? Does it suggest the need for a cancer risk assessment? Gebhart, E. Spontaneous and induced chromosomal instability in Werner syndrome.

Cytogenetic studies using various clastogens in two patients with Werner syndrome and control individuals. Goto, M. Werner's syndrome: analysis of 15 cases with a review of the Japanese literature. Analysis of helicase gene mutations in Japanese Werner's syndrome patients. Excess of rare cancers in Werner syndrome adult progeria. Cancer Epidemiol. Biomarkers Prev. Genetic linkage of Werner's syndrome to five markers on chromosome 8.

Nature , Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Gray, M. The Werner syndrome protein is a DNA helicase. Nature Genet. Hayflick, L. The limited in vitro lifetime of human diploid cell strains. Cell Res. Hoehn, H. Variegated translocation mosaicism in human skin fibroblast cultures. Cell Genet. Huang, S. The premature ageing syndrome protein, WRN, is a 3-primeprime exonuclease. Imamura, O. Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization.

Genomics , Ishikawa, Y. Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race.

Cancer , Izumino, K. Troglitazone ameliorates insulin resistance in patients with Werner's syndrome. Jensen, R. Direct immunofluorescence labeling provides an improved method for the glycophorin A somatic mutation assay. Cytometry , Khraishi, M. A patient with Werner's syndrome and osteosarcoma presenting as scleroderma.

Krejci, L. DNA helicase Srs2 disrupts the Rad51 presynaptic filament. Kyng, K. Gene expression profiling in Werner syndrome closely resembles that of normal aging. Lombard, D. Mutations in the WRN gene in mice accelerate mortality in a pnull background.

Martin, G. The Werner mutation: does it lead to a 'public' or 'private' mechanism of aging? Matsumoto, T. Impaired nuclear localization of defective DNA helicases in Werner's syndrome.

Letter Nature Genet. McKusick, V. Medical genetics Chronic Dis. Meisslitzer, C. Werner syndrome: characterization of mutations in the WRN gene in an affected family. Mohaghegh, P. DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.

Monnat, R. Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase HPRT gene deletions. Letter Cancer , Moser, M. Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes.

Cancer Res. WRN mutations in Werner syndrome. Note: Erratum: Hum. Motulsky, A. Werner's syndrome: chromosomes, genes, and the ageing process. Lancet , Note: Originally Volume I. Nakura, J. Homozygosity mapping of the Werner syndrome locus WRN. Nordenson, I. Chromosome breaks in Werner's syndrome and their prevention in vitro by radical-scavenging enzymes.

Hereditas , Ogburn, C. An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. Oshima, J. Homozygous and compound heterozygous mutations at the Werner syndrome locus. Prince, P. Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines.

Rabbiosi, G. Werner's syndrome: seven cases in one family. Dermatologica , Ruprecht, K. Ophthalmological aspects in patients with Werner's syndrome. Sadakane, Y. Salk, D. Effects of radical-scavenging enzymes and reduced oxygen exposure on growth and chromosome abnormalities of Werner syndrome cultured skin fibroblasts. Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts.

Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations. Samantray, S. Werner syndrome. New Zeal. Scappaticci, S. Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's syndrome.

Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome. Schellenberg, G. Homozygosity mapping and Werner's syndrome. Letter Lancet , Schonberg, S. Werner's syndrome: proliferation in vitro of clones of cells bearing chromosome translocations. Thomas, W. Psychological counseling may also be beneficial in supporting patients and family members affected by WS.

Patients with WS have a shortened life expectancy but prognosis depends on the age-related diseases present and their severity. Other search option s Alphabetical list. Suggest an update.

Summary and related texts. Related genes. Clinical signs. To get in touch with the Orphanet team, please contact Information provided in your contribution including your email address will be stocked in. Check this box if you wish to receive a copy of your message. Disease definition Werner syndrome WS is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

Clinical description WS patients are normal at birth and during childhood, apart from the absence of a pubertal growth spurt. Genetic counseling WS is inherited in an autosomal recessive manner. Management and treatment There is no cure for WS and treatment involves a multidisciplinary team. Prognosis Patients with WS have a shortened life expectancy but prognosis depends on the age-related diseases present and their severity.

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