Werner’s Syndrome (Progeria of the Adult) and Rothmund’s Syndrome: Two Types of Closely Related Heredofamilial Atrophic Dermatoses with Juvenile Cataracts and Endocrine Features; A Critical Study with Five New Cases

Thannhauser, S. J.

doi:10.1007/978-1-4684-7853-2_2

Cited by 65 publications

(16 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…He described several progeric manifestations, in addition to skin sclerosis and bilateral juvenile cataracts. Werner carefully differentiated the clinical manifestations in his patients from those with similar phenotypic manifestations formerly described by Rothmund (18), later known as Rothmund-Thomson syndrome (RTS: MIM#26840; [18][19][20]. Interestingly, we found the mutation of RecQ4 (RECQL4) located at chr 8p24.3, belonging to the same RecQ helicase family as WS causes RTS (21).…”

Section: Brief History Of Clinical Characterization Of Werner Syndromementioning

confidence: 55%

“…The first reference of the rare malignancy in WS, fibroliposarcoma, was reported by Agatson and Gartner in 1939 (23,26). A Boston internist, Thannhauser reviewed WS and RTS as the discrete syndromes in 1945 (20), and Seattle-based geneticist group, Epstein et al released a landmark overview on 125 cases of WS including 8 Japanese cases in 1966 (5).…”

Section: Brief History Of Clinical Characterization Of Werner Syndromementioning

confidence: 99%

See 1 more Smart Citation

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

et al. 2013

View full text Add to dashboard Cite

Section: Brief History Of Clinical Characterization Of Werner Syndromementioning

confidence: 55%

Section: Brief History Of Clinical Characterization Of Werner Syndromementioning

confidence: 99%

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

et al. 2013

View full text Add to dashboard Cite

“…Patients appear normal until the second decade of life, when they develop pathologies that phenocopy many aspects of normal human aging, including alopecia, ischemic heart disease, osteoporosis, bilateral ocular cataracts, type II diabetes mellitus, and hypogonadism (Thannhauser, 1945). WS patients also experience an increased risk of rare non-epithelial cancers, especially mesenchymal neoplasms such as sarcomas (Goto et al, 1996).…”

mentioning

confidence: 99%

WRN at telomeres: implications for aging and cancer

Multani

Chang

2007

Journal of Cell Science

View full text Add to dashboard Cite

Werner Syndrome (WS) is a fascinating autosomal recessive disorder affecting ~10 per million individuals (Epstein et al., 1966). Patients appear normal until the second decade of life, when they develop pathologies that phenocopy many aspects of normal human aging, including alopecia, ischemic heart disease, osteoporosis, bilateral ocular cataracts, type II diabetes mellitus, and hypogonadism (Thannhauser, 1945). WS patients also experience an increased risk of rare non-epithelial cancers, especially mesenchymal neoplasms such as sarcomas (Goto et al., 1996). Death usually occurs in the fourth decade from cardiovascular compromise or cancer. Fibroblasts isolated from WS patients characteristically senesce prematurely in culture (Faragher et al., 1993) and display increased chromosomal aberrations (Salk et al., 1981;Melcher et al., 2000). Since WS is caused by mutation of a single gene, WRN, these observations suggest that the WRN gene product functions to maintain genome stability.Cloning of WRN ten years ago revealed that it encodes a protein containing a highly conserved 3Ј to 5Ј DNA helicase domain of the RecQ family (reviewed by Martin and Oshima, 2000). RecQ helicase family members are involved in diverse biochemical processes, including DNA recombination, replication and repair, and WRN has been implicated in all of these (reviewed by Hickson, 2003). WRN also possesses several other conserved domains, including a 3Ј to 5Ј exonuclease domain, a nuclear localization sequence, and a multifunctional DNA/protein-binding domain (DPBD) that interacts with both DNA and proteins (reviewed by Orren, 2006). Through these domains WRN interacts with many factors that participate in diverse aspects of DNA metabolism beyond the scope of this commentary. Here, we focus on recent progress that indicates WRN might have a role at telomeres. Discussion of other aspects of WRN biology can be found elsewhere (Hickson, 2003; Comai and Li, 2004;Bohr, 2005;Orren, 2006). Telomere structure and maintenanceTelomeres are nucleoprotein structures that cap the ends of eukaryotic chromosomes and play crucial roles in maintaining genomic stability by providing both end-protection and a mechanism for generating chromosomal ends (LeBel and Wellinger, 2006). In mammals, telomeres consist of TTAGGG repetitive sequences that terminate in a 3Ј single-stranded Grich overhang. Telomeres can fold into a structure termed the t-loop, in which the 3Ј single-stranded overhang invades a duplex region of the telomere to sequester the overhang, forming a single-stranded displacement (D) loop (Griffith et al., 1999;Murti and Prescott, 1999). This telomeric conformation probably protects natural DNA ends from being recognized as double-strand breaks (DSBs) that would otherwise activate DNA damage checkpoint responses or participate in aberrant recombination events (reviewed by d'Adda di Fagagna et al., 2004). However, an extended telomeric conformation must also exist to facilitate replication of telomeres during S phase. Telomeres are maintained by the e...

show abstract

“…Thannhauser 3 has listed 12 principal characteristics of Werner's syndrome, but even the classic review by Epstein et al 1 did not specify the minimum criteria for diagnosis. However, Werner was quoted as being impressed principally by the cataract formation, skin changes, senile appearance, and graying of the hair.…”

Section: Discussionmentioning

confidence: 99%

Werner's Syndrome, Pheochromocytoma due to an Abdominal Paraganglioneuroma, and Geophagia in an Arab

1990

View full text Add to dashboard Cite

Werner’s Syndrome (Progeria of the Adult) and Rothmund’s Syndrome: Two Types of Closely Related Heredofamilial Atrophic Dermatoses with Juvenile Cataracts and Endocrine Features; A Critical Study with Five New Cases

Cited by 65 publications

References 5 publications

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

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

WRN at telomeres: implications for aging and cancer

Werner's Syndrome, Pheochromocytoma due to an Abdominal Paraganglioneuroma, and Geophagia in an Arab

Contact Info

Product

Resources

About