Herlyn – Werner – Wunderlich syndrome (HWWS) is an uncommon combined Mullerian and Mesonephric duct anomaly, and its presentation in neonatal period is even rarer. Symptoms generally occur after menarche about 12 to 13 years old and it is usually diagnosed by pelvic magnetic resonance imaging. Our case is 1 day old asymptomatic newborn with all the features of this syndrome that came to our att...

Fibroblast cultures from two Werner syndrome patients were analyzed by spectral karyotyping. There were multiple, pseudodiploid clones in both cultures, mostly marked by random balanced reciprocal translocations. One of the cultures contained a clone with three-way exchanges involving chromosomes 2, 3, and 16. Duplication-deficiencies were exceptional, as were completely normal metaphases. The ...

W syndrome (WS) is an autosomal recessive disease, which is characterized by premature aging, short stature, cataract, dermal atrophy and ulcers, turning white early on hairs, alopecia, vascular calcification, diabetes mellitus, and osteoporosis.1,2 Kidney involvement is rarely seen in WS.3,4 We report a case of WS associated with end stage renal failure without any risk factor. A 29-year-old m...

AbstractIntroduction Werner protein (WRN) plays an important role in DNA repair, replication, transcription, and consequently genomic stability via its DNA-helicase exonuclease activity. Loss of function WRN is associated with syndrome (WS), which characterized by premature aging cancer predisposition. Malignancies that are commonly linked to WS thyroid carcinoma, melanoma, br...

Werner syndrome (WRN) is an uncommon autosomal recessive disease whose phenotype includes features of premature aging, genetic instability, and an elevated risk of cancer. We used three different experimental strategies to show that WRN cellular phenotypes of limited cell division potential, DNA damage hypersensitivity, and defective homologous recombination (HR) are interrelated. WRN cell surv...

Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Werner syndrome (WS), which is characterized by acceler...

Herlyn–Werner–Wunderlich syndrome (HWWS) is a congenital Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of HWWS and explores the possible association between the 2 diseases. A previously unrep...

Werner syndrome is an autosomal inherited disease that is characterized by premature aging. The gene mutated in Werner syndrome (WS), WRN, encodes both a 3' --> 5' DNA helicase and a 3' --> 5' DNA exonuclease. Among the WS phenotypes is an exceptionally high incidence of sarcomas. We asked whether spontaneous sarcomas, not known to be associated with WS, also harbor mutations or unreported sing...