A case of Rothmund-Thomson syndrome with reduced DNA repair capacity

Shinya, A.

doi:10.1001/archderm.129.3.332

Cited by 19 publications

(13 citation statements)

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“…Those tumours were also diagnosed at a young age. The reduced DNA repair capacity in some patients with the Rothmund-Thomson syndrome, as reported by several authors [3, 31, 32, 33], could play an important role in the development of those malignancies. The increased risk of malignancies, combined with a possible susceptibility for severe infections of the respiratory tract as in our patient, justifies a regular follow-up of patients with the Rothmund-Thomson syndrome.…”

Section: Discussionmentioning

confidence: 83%

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

et al. 1998

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The Rothmund-Thomson syndrome is a rare syndrome which is believed to be inherited in an autosomal pattern. Poikiloderma of the face and extremities is a characteristic feature. Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies. We present a patient with the Rothmund-Thomson syndrome together with anhidrosis and multiple infections of the upper and lower respiratory tract. Investigation of immunological function revealed a low total number of T lymphocytes with a slightly depressed reactivity. Immunoglobulins were markedly increased.

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Section: Discussionmentioning

confidence: 83%

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

et al. 1998

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“…Previous case reports of UV sensitivity in RTS cells (Park et al 2006;Shinya et al 1993) along with the consideration of RTS as a DNA damage repair disease similar to ataxia-telangiectasia, have impacted the clinical management of patients with RTS. For example, some patients have been advised major lifestyle alterations based on sun avoidance, while others diagnosed with cancer have received decreased doses of chemotherapy based on the assumption that RTS patients would not be able to tolerate DNA damaging chemotherapeutic agents at standard doses.…”

Section: Discussionmentioning

confidence: 99%

“…Hypersensitivity of RECQL4-deWcient cells to oxidative stress, manifested as decreased cell growth, decreased S-phase cells in the cell cycle, and reduced DNA synthesis after recovery from H 2 O 2 -induced damage has been reported (Werner et al 2006). RECQL4-deWcient cells have also been shown to display abnormal responses after treatment with other agents such as HU, ultraviolet (UV) and ionizing radiation (IR), but results have been inconsistent (Grant et al 2000;Hoki et al 2003;Park et al 2006;Shinya et al 1993;Smith and Paterson 1981;Smith and Paterson 1982;Vasseur et al 1999). One possibility for the inconsistencies could be the use of diVerent experimental systems.…”

Section: Introductionmentioning

confidence: 99%

Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents

et al. 2008

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RECQ helicase protein-like 4 (RECQL4) is a member of the human RECQ family of DNA helicases. Two-thirds of patients with Rothmund-Thomson syndrome (RTS) carry biallelic inactivating mutations in the RECQL4 gene. RTS is an autosomal recessive disorder characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts, and an increased risk of cancer. Mutations in two other RECQ helicases, BLM and WRN, are responsible for the cancer predisposition conditions Bloom and Werner syndromes, respectively. Previous studies have shown that BLM and WRN-deficient cells demonstrate increased sensitivity to hydroxyurea (HU), camptothecin (CPT), and 4-nitroquinoline 1-oxide (4NQO). Little is known about the sensitivity of RECQL4-deficient cells to these and other genotoxic agents. The purpose of this study was to determine if RTS cells display any distinct cellular phenotypes in response to DNA damaging agents or replication blocks that could provide insight into the molecular function of the RECQL4 protein. Our results show that primary fibroblasts from RTS patients carrying two deleterious RECQL4 mutations, compared to wild type (WT) fibroblasts, have increased sensitivity to HU, CPT, and doxorubicin (DOX), modest sensitivity to other DNA damaging agents including ultraviolet (UV) irradiation, ionizing radiation (IR), and cisplatin (CDDP), and relative resistance to 4NQO. The RECQ family of DNA helicases has been implicated in the regulation of DNA replication, recombination, and repair. Because HU, CPT, and DOX exert their effects primarily during S phase, these results support a greater role for the RECQL4 protein in DNA replication as opposed to repair of exogenous damage.

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“…Cytogenetic studies on five patients made to date evidenced chromosomal instability, although spontaneous and induced chromosomal breakage in lymphocytes was not notably greater than in controls (Der Kaloustian et al, 1990;Kerr et al, 1996;Lindor et al, 1996). Other reports include a reduced DNA repair capacity in cells from individuals with RTS that are exposed to ultraviolet C (Shinya et al, 1993) and gamma rays (Smith and Paterson, 1982). Other inconsistent reports exist regarding the reduced DNA repair capacity in cells from RTS patients.…”

Section: Introductionmentioning

confidence: 97%

Rothmund–Thomson Syndrome Responsible Gene, RECQL4: Genomic Structure and Products

et al. 1999

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A case of Rothmund-Thomson syndrome with reduced DNA repair capacity

Cited by 19 publications

References 0 publications

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents

Rothmund–Thomson Syndrome Responsible Gene, RECQL4: Genomic Structure and Products

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