Rothmund-Thomson syndrome

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Description from OMIM

Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). Genetic Heterogeneity of Rothmund-Thomson Syndrome Wang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS. Simon et al. (2010) stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity.

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Poikiloderma integumentary 100 % 11471165 2011-10-19
Telangiectasia integumentary 100 % 11471165 2011-10-13
Sun sensitivity integumentary 100 % 11471165 2011-10-13
Poikiloderma integumentary 100 % 24635570 2015-09-18
Short stature skeletal 89 % 24635570 2015-09-18
Short stature skeletal 66 % 11471165 2011-10-13
Alopecia integumentary 61 % 11471165 2011-10-13
Patellar hypoplasia skeletal 50 % 24635570 2015-09-18
Thumb abnormalities skeletal 44 % 24635570 2015-09-18
Cancer skeletal 32 % 11471165 2011-10-13
Vomiting digestive 22 % 24635570 2015-09-18
Radial hypoplasia skeletal 20 % 11471165 2015-09-18
Craniosynostosis skeletal 11 % 24635570 2015-09-18
Diarrhea digestive 11 % 24635570 2015-09-18
Cataract nervous 6 % 11471165 2011-10-13

List of references:

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
L L Wang, M L Levy, R A Lewis, M M Chintagumpala, D Lev, M Rogers, S E Plon,

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, skeletal abnormalities, juvenile cataracts, and predisposition to specific cancers. We have identified a contemporary cohort of 41 patients to better define the clinical profile, diagnostic criteria, and management of patients with RTS. Patients with the diagnosis of RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or from direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. The age range at ascertainment was 9 months to 42 years (28 males and 13 females; M:F, 2:1). All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (OS) (32%), eight had radial defects (20%), seven had gastrointestinal findings (17%), two had cataracts (6%), and one had skin cancer (2%). Twenty-two of 28 patients without OS were less than 15 years old and thus remain at significant risk for this tumor. This case-series study reveals a clinical profile of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports. These differences may reflect either allelic or genetic heterogeneity. This study documents the frequency of clinical anomalies in a contemporary cohort of RTS patients and revises guidelines for diagnosis and management of RTS.

American journal of medical genetics - Jul 2001

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
J Piard, B Aral, P Vabres, M Holder-Espinasse, A Mégarbané, S Gauthier, V Capra, G Pierquin, P Callier, C Baumann, L Pasquier, G Baujat, L Martorell, A Rodriguez, A F Brady, F Boralevi, M A González-Enseñat, M Rio, C Bodemer, N Philip, M-P Cordier, A Goldenberg, B Demeer, M Wright, E Blair, E Puzenat, P Parent, Y Sznajer, C Francannet, N DiDonato, O Boute, V Barlogis, O Moldovan, D Bessis, C Coubes, M Tardieu, V Cormier-Daire, A B Sousa, J Franques, A Toutain, M Tajir, S C Elalaoui, D Geneviève, J Thevenon, J-B Courcet, J-B Rivière, C Collet, N Gigot, L Faivre, C Thauvin-Robinet,

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

Clinical genetics - Mar 2015