- in the region of bands 8p12-p11.2.
It is a RECQL2 gene which encodes what is termed a RecQ DNA helicase. Bloom syndrome, which has features quite different from those of Werner syndrome, is caused by defects in another human RecQ-like helicase, RECQL3. Werner syndrome has been much studied as a genetic model of aging. It is named for the German physician Otto Werner (1879-1936). In his doctoral dissertation in 1904, Werner described 4 sisters with cataracts and scleroderma-like skin. The name "Werner's syndrome" was first used in 1934 by two Americans, BS Oppenheimer and Kugel VH, who rediscovered Werner's dissertation. Werner syndrome has nothing whatsoever to do with Werner-His disease which is a louse-borne illness first recognized in the trenches of World War I and so named trench fever.
* * *an autosomal recessive syndrome of premature aging in the adult, caused by mutations in the RECQL2 gene (locus: 8p12-p11.2), which encodes a helicase important in maintaining genome stability. Characteristics include short stature with slender limbs and a stocky trunk, scleroderma-like skin changes (especially on the limbs), cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, prematurely aged face, canities, baldness, and a high incidence of malignancy.
Medical dictionary. 2011.
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Werner syndrome — Werner syndrome. См. прогерия взрослых. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
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