Open AccessReport of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome
Author(s) -
Sakshi Yadav,
Seema Thakur,
Juergen Kohlhase,
Neetu Bhari,
Madhulika Kabra,
Neerja Gupta
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1684017
Subject(s) - poikiloderma , failure to thrive , short stature , skin lesion , medicine , mutation , dermatology , gene , genetics , pediatrics , biology
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in RECQL4 and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants in RECQL4 gene . Case-1 was evaluated for poor growth and recurrent fractures and skin lesions. Case-2 presented at 4 months with failure to thrive and radial ray defect and developed poikilodermatous skin lesions after infancy. Both cases were confirmed to have homozygous pathogenic variants in RECQL4 . Both patients have normal intellect and are on supportive therapy. The presence of characteristic poikiloderma lesions with specific distribution and skeletal anomalies in a patient with proportionate short stature is a clue toward the diagnosis of RTS.