Werner syndrome: A changing pattern of clinical manifestations in Japan (1917-2008)

Goto, Makoto; Ishikawa, Yuichi; Sugimoto, Masanobu; Furuichi, Yasuhiro

doi:10.5582/bst.2013.v7.1.13

Cited by 66 publications

(98 citation statements)

References 52 publications

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“…More than 80 different WRN pathogenic variants have been reported from all over the world [Huang et al, 2006;Yokote et al, 2017]. Due to the presence of founder mutations, Japan and the region of Sardinia in Italy are among countries with the highest frequencies of WS [Satoh et al, 1999;Masala et al, 2007;Goto et al, 2013]. Another potential founder mutation has been reported in India/Pakistani patients, although WS may be underdiagnosed due to the relatively low awareness of this disorder [Saha et al, 2013].…”

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confidence: 99%

“…most common causes of death are myocardial infarction and cancer at a median age of 54 years [Huang et al, 2006;Goto et al, 2013]. The Japanese Werner Consortium, Chiba University, in Chiba, Japan, proposed diagnostic criteria consisting of 6 cardinal symptoms: progeroid change of hair, cataracts, changes of skin including intractable skin ulcer, soft-tissue calcification, and a birdlike abnormal face [Takemoto et al, 2013].…”

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confidence: 99%

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Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients

et al. 2018

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Werner syndrome (WS) is a rare autosomal recessive disorder characterized by systemic accelerated aging. It is caused by pathogenic variants of the WRN gene that encodes a nuclear helicase. In this report, we describe 4 newly identified WS cases among those referred to the Japanese Werner Consortium, Chiba University, Japan. All 4 cases were compound heterozygotes of the Japanese founder mutation, c.3139-1G>C, and a novel null pathogenic variant, c.1587G>A, c.2448+1G>A, or c.3233+1G>T, or an amino acid substitution variant, c.1720G>A, p.Gly574Arg. These 3 null pathogenic variants were not previously described. The p.Gly574Arg was previously reported in a European patient, and the identification of the second p.Gly574Arg case, with classical WS features, further confirmed the pathogenic nature of this variant. For the case with c.3233+1G>T, we determined the phase of 2 disease-causing mutations and demonstrated that they are on different chromosomes. This assay would be particularly important for those cases with ambiguous clinical diagnosis.

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Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients

et al. 2018

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“…Both epithelial and non-epithelial malignancies are frequent in WS. The reported malignancy incidence is 23 to 40% in WS (3,4). A recent review of the literature has showed that thyroid neoplasms (mainly follicular thyroid carcinoma), malignant melanoma, meningioma, soft tissue sarcomas, leukemia, and osteosarcoma/bone neoplasms accounted for 67% of all neoplasms (27).…”

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confidence: 99%

Early Onset Werner Syndrome

Aydoğan¹,

Ünlütürk²,

Demir³

et al. 2015

tjem

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“…53 It will be interesting in the future to evaluate whether different WS patients' tissues exhibit increased WRN promoter methylation similar to the na€ ıve B cells and derived immortalized lymphoblastoid cell lines. Moreover, WRN mRNA expression was increased upon treatment of the cells with the demethylating agent 5-aza (Fig.…”

Section: Discussionmentioning

confidence: 99%

A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies

et al. 2015

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Werner Syndrome (WS) is a rare inherited disease characterized by premature aging and increased propensity for cancer. Mutations in the WRN gene can be of several types, including nonsense mutations, leading to a truncated protein form. WRN is a RecQ family member with both helicase and exonuclease activities, and it participates in several cell metabolic pathways, including DNA replication, DNA repair, and telomere maintenance. Here, we reported a novel homozygous WS mutation (c.3767 C > G) in 2 Argentinian brothers, which resulted in a stop codon and a truncated protein (p.S1256X). We also observed increased WRN promoter methylation in the cells of patients and decreased messenger WRN RNA (WRN mRNA) expression. Finally, we showed that the read-through of nonsense mutation pharmacologic treatment with both aminoglycosides (AGs) and ataluren (PTC-124) in these cells restores full-length protein expression and WRN functionality.

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Werner syndrome: A changing pattern of clinical manifestations in Japan (1917-2008)

Cited by 66 publications

References 52 publications

Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients

Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients

Early Onset Werner Syndrome

A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies

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