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List of references:
The spectrum of WRN mutations in Werner syndrome patients.
Shurong Huang, Lin Lee, Nancy B Hanson, Catherine Lenaerts, Holger Hoehn, Martin Poot, Craig D Rubin, Da-Fu Chen, Chih-Chao Yang, Heike Juch, Thomas Dorn, Roland Spiegel, Elif Arioglu Oral, Mohammed Abid, Carla Battisti, Emanuela Lucci-Cordisco, Giovanni Neri, Erin H Steed, Alexa Kidd, William Isley, David Showalter, Janet L Vittone, Alexander Konstantinow, Johannes Ring, Peter Meyer, Sharon L Wenger, Axel von Herbay, Uwe Wollina, Markus Schuelke, Carin R Huizenga, Dru F Leistritz, George M Martin, I Saira Mian, Junko Oshima,
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 previously been published. All WRN mutations reported thus far have resulted in the elimination of the nuclear localization signal at the C-terminus of the protein, precluding functional interactions in the nucleus; thus, all could be classified as null mutations. We now report two new mutations in the N-terminus that result in instability of the WRN protein. Clinical data confirm that the most penetrant phenotype is bilateral ocular cataracts. Other cardinal signs were seen in more than 95% of the cases. The median age of death, previously reported to be in the range of 46-48 years, is 54 years. Lymphoblastoid cell lines (LCLs) have been cryopreserved from the majority of our index cases, including material from nuclear pedigrees. These, as well as inducible and complemented hTERT (catalytic subunit of human telomerase) immortalized skin fibroblast cell lines are available to qualified investigators.
Human mutation - Jun 2006
MR evidence of structural and metabolic changes in brains of patients with Werner's syndrome.
Nicola De Stefano, Maria T Dotti, Carla Battisti, Francesco Sicurelli, Maria L Stromillo, Marzia Mortilla, Antonio Federico,
To assess CNS abnormalities in patients with Werner's syndrome (WS) using MR metrics specific for tissue damage.
Journal of neurology - Oct 2003
Werner syndrome: clinical evaluation of two cases and a novel mutation.
A T Mansur, N H Elçioglu, G T Demirci,
Werner syndrome (WS) is a premature aging disorder, inherited in an autosomal recessive pattern and caused by the mutation in the WRN gene. In this report we describe two male patients with negative family history who demonstrate characteristic findings of WS, with different mutations, including one novel mutation. The first case was a 47-year-old man who had been suffering from large, ischemic ulcers on both legs for 7 years. Physical examination revealed a thin and short man with severe wasting of all extremities. He had a high-pitched voice, hoarseness, a characteristic bird-like facies, bilateral cataracts, generalized osteoporosis, hypotrichosis, atrophic and poikilodermic skin, flexion contractures of hands, feet and knees, and soft tissue calcifications. Laboratory investigations revealed anemia, high erythrocyte sedimentation rate, low creatinine clearance, and high liver enzymes. Genetic analysis showed a homozygous novel 1bp-deletion in exon 19 of WRN, 2426/27delG, causing frameshift and protein truncation R809SfsX2, which has not been described before. The second case was a 23-year-old man who was referred for large callosities on both feet, present for 7 years. He complained of weakness, weight loss, wasting of muscles, and early graying of hair. The entire skin was thin, wrinkled and dry. Generalized hypotrichosis, scattered ephelid-like macules, sclerotic fingers, calcinosis cutis on ears, hyperpigmentation on elbows were the other alterations of skin. Skeletal survey revealed osteoporosis. Genetic analysis showed a homozygous known pathogenic splice site mutation c.3460-2A>G, causing skipping of Exon 30 in WRN.
Genetic counseling (Geneva, Switzerland) - 2014
Incidence and characteristics of metabolic disorders and vascular complications in individuals with Werner syndrome in Japan.
Emiko Okabe, Minoru Takemoto, Shunichiro Onishi, Takahiro Ishikawa, Ryouichi Ishibashi, Peng He, Kazuki Kobayashi, Masaki Fujimoto, Harukiyo Kawamura, Koutaro Yokote,
Journal of the American Geriatrics Society - May 2012