Radiographic Abnormalities in Rothmund-Thomson Syndrome and Genotype–Phenotype Correlation with RECQL4 Mutation Status

Abstract

Skeletal abnormalities are frequent in persons with RTS. Many of these abnormalities are not clinically apparent but are detectable on radiographs. The presence of skeletal abnormalities correlates with RECQL4 mutation status, which has been found to correlate with risk of osteosarcoma. Skeletal surveys aid in both diagnosis and management of RTS.

Osteosarcoma: Molecular Pathogenesis and iPSC Modeling

“…The majority of patients with Type II RTS are compound heterozygous for RECQL4 mutations, and most of these mutations are predicted to cause truncated protein. Genotype-phenotype correlations have shown that Type II RTS patients are at much higher risk for skeletal defects and osteosarcoma compared to Type I RTS patients [60, 142, 144, 145]. …”

Clinical utility gene card for: Rothmund–Thomson syndrome

“…Lifespan in the absence of malignancy is probably normal, although follow-up data in the literature are limited. RECQL4-positive patients exhibit a significant correlation between mutational status and skeletal abnormalities 16 and are highly predisposed to development of osteosarcoma, even multicentric, with a mean age of onset of 14.03 years.…”

Photosensitivity disorders in children

“…26 Many individuals tend to be small for gestational age at birth, and have small stature throughout life. The majority of individuals (as high as 75% in some series 27 ) have radiographic abnormalities of the bone (dysplasias, absent or malformed bones, or delayed bone formation) and dental abnormalities (rudimentary or hypoplastic teeth and the increased incidence of caries). Osteosarcoma is the most commonly reported malignancy in RTS, with a prevalence of about 30% and median age of onset at 11 years of age.…”