Clinical Aspects of Werner’s Syndrome: Its Natural History and the Genetics of the Disease

Goto, Makoto

doi:10.1007/978-1-4419-9032-7_1

Cited by 8 publications

(8 citation statements)

References 40 publications

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“…More than 70 WRN gene mutations, including nonsense mutations, missense mutations, insertion/deletions and substitutions at splice junctions have been demonstrated in WS (10,11). Potential founder mutations have been reported for Japanese (c.3139-1G>C), Dutch (c.3590delA, p.N1197fs), Turkish (c.3460-2A>G, exon 30 deletion), and Moroccan (c.2179dupT, p.C727fs) patients (10,12). Other progeroid syndromes are also caused by mutations in different genes encoding DNA repair proteins (13).…”

Section: Discussionmentioning

confidence: 99%

Early Onset Werner Syndrome

Aydoğan¹,

Ünlütürk²,

Demir³

et al. 2015

tjem

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Section: Discussionmentioning

confidence: 99%

Early Onset Werner Syndrome

Aydoğan¹,

Ünlütürk²,

Demir³

et al. 2015

tjem

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“…A structured multidisciplinary approach to avoid metabolic complications could have also been included 17 – 20Learning points

Alternative clinical methods could be used to diagnose Werner's syndrome (WS), in the absence of direct genetic testing.

WS might be suspected by incorporating hallmark clinical signs and associating them with metabolic conditions, instead of suspecting isolated pathologies.

Owing to the nature of WS, this ought to be managed in a multidisciplinary approach, especially during pregnancy; obstetric vigilance should be encouraged in order to prevent and diminish death and potential risks, inherent both in the disorder and the gestational period.

…”

Section: Discussionmentioning

confidence: 99%

Werner's syndrome: incidental finding during pregnancy

Sandoval¹,

Dardón²,

Robles

et al. 2013

BMJ Case Reports

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Werner's syndrome (WS) is a rare autosomal recessive disorder, characterised by skin changes prematurely during adolescence. An unusual case of WS was found in a 27-year-old pregnant woman who presented to the hospital with a history of uncontrolled hypertension at 32 weeks of gestation. All clinical features corresponding to WS (early aging of skin, hair loss, blurred vision and diabetes type 2) appeared to match with the prospective diagnosis, which was confirmed later with genetic testing. The pregnancy became complicated due to oligohydramnios and therefore a caesarean section was carried out in order to preserve the fetus. Despite all implemented efforts, the patient died intraoperative as a result of cardiac arrest and its complications. Successfully, the newborn survived and it was further investigated to exclude this condition.

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“…WS is a rare autosomal recessive disorder also called adult progeria, and represents the most studied disease model of premature aging in adulthood 30. In the Japanese population, a founder effect has been described, and the frequency of WS has been roughly estimated to be 1:100,000 30…”

Section: Werner Syndromementioning

confidence: 99%

“…An unusual spectrum of cancers has been observed in WS subjects who usually die at a mean age of 53–54 years from cancer or arteriosclerosis 30. Controversy exists regarding the degree of brain involvement in WS 1.…”

Section: Werner Syndromementioning

confidence: 99%

“…The WRN protein has several functional domains (Figure 2), and mutations leading to WS have been observed in all of them. There are founder mutations reported among Japanese patients (c.3139-1G>C, which results in skipping of exon 26) and in Sardinian patients (c.2089-3024A>G, which creates a new exon between exons 18 and 19) 30,31. Potential founder mutations have been reported for Dutch (c.3590delA, p.N1197fs), Turkish (c.3460-2A>G, exon 30 deletion), and Moroccan (c.2179dupT, p.C727fs) patients 36…”

Section: Werner Syndromementioning

confidence: 99%

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The epidemiology of premature aging and associated comorbidities

Coppedè¹

2013

CIA

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Hutchinson–Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. The discovery of their genetic basis has led to the identification of several gene mutations leading to a spectrum of progeroid phenotypes ranging from moderate and mild–severe to very aggressive forms. In parallel, the creation of disease registers and databases provided available data for the design of relatively large-scale epidemiological studies, thereby allowing a better understanding of the nature and frequency of the premature aging-associated signs and symptoms. The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases.

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Clinical Aspects of Werner’s Syndrome: Its Natural History and the Genetics of the Disease

Cited by 8 publications

References 40 publications

Early Onset Werner Syndrome

Early Onset Werner Syndrome

Werner's syndrome: incidental finding during pregnancy

The epidemiology of premature aging and associated comorbidities

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