Five novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient

Rothmund-Thomson syndrome (RTS; OMIM # 268400), also known as poikiloderma congenitale, is a rare autosomal recessive genodermatosis characterized by poikiloderma (skin atrophy, telangiectasia, hyperpigmentation and hypopigmentation) associated with photosensitivity, short stature resulting from growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, premature aging and a predisposition to neoplasia (osteosarcoma and spinocellular carcinoma) [1,2].