Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome

Abstract

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.

Keywords

Rothmund–Thomson syndrome - RECQL4 - poikiloderma

Note

No disclaimers. Consent for publication of their details and photographs have been taken from the parents of both the children. There is no conflict of interest among all authors.

Author Contribution

S.Y. reviewed the literature and drafted the initial version of the manuscript. N.B. helped assess the dermatological manifestations. N.G. and S.T. helped in the acquisition of data. J.K. performed molecular testing. N.G., M.K., and S.T. contributed to literature review and critically revised the manuscript. All the authors contributed to drafting of the manuscript and approved the final version of the manuscript.

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