Disease relevance of Rothmund-Thomson Syndrome

• Of the five human RecQ helicases identified, three are associated with genetic disorders characterized by an elevated incidence of cancer or premature aging: Werner syndrome, Bloom syndrome, and Rothmund-Thomson syndrome [1].
• It may indicate a serious underlying systemic disease such as lupus erythematosus or dermatomyositis, or be an early symptom of a rare group of genetic disorders that includes the porphyrias, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome, and Rothmund-Thomson syndrome [2].
• The Drosophila melanogaster RECQ5/QE gene encodes a member of the DNA helicase family comprising the Escherichia coli RecQ protein and products of the human Bloom's, Werner's, and Rothmund-Thomson syndrome genes [3].

High impact information on Rothmund-Thomson Syndrome

• Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome [4].
• Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome [5].
• Mutations in the Recql4 gene are very likely responsible for a subset of Rothmund-Thomson syndrome (RTS) cases, but until now there has been no animal model to confirm this [6].
• The Bloom's syndrome gene product, BLM, belongs to the RecQ family of DNA helicases, which also includes the human Werner's and Rothmund-Thomson syndrome gene products and the Sgs1 protein of Saccharomyces cerevisiae [7].
• RECQL4 (RecQ helicase protein-like 4) was identified as a fourth member of the human RecQ helicase family bearing the helicase domain, and it was subsequently shown to be the responsible gene in Rothmund-Thomson syndrome [8].

Biological context of Rothmund-Thomson Syndrome

• Recently, RECQL4 was identified as the gene responsible for some cases of Rothmund-Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors [9].
• She was previously reported in this journal in 1990 as poikiloderma congenitale, but her true diagnosis of an Xp22.3 microdeletion was clarified when fluorescent in situ hybridization (FISH) analysis indicated that one of her X chromosomes had a microdeletion including the KAL gene [10].
• A number of human genetic disorders, including Werner Syndrome, Bloom Syndrome and Rothmund-Thomson Syndrome, exhibit genomic instability with some phenotypic characteristics of premature aging and cancer predisposition [11].

Gene context of Rothmund-Thomson Syndrome

• The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients [12].
• Osteogenic sarcoma and Rothmund Thomson syndrome [13].
• Growth hormone deficiency in the Rothmund-Thomson syndrome [14].
• PURPOSE: To report the use of excimer laser phototherapeutic keratectomy (PTK) in the treatment of corneal subepithelial nodular scarring in a child with Rothmund-Thomson syndrome (RTS), a form of ectodermal dysplasia [15].

References