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

Content Provider	Europe PMC
Author	Yadav, Sakshi Thakur, Seema Kohlhase, Juergen Bhari, Neetu Kabra, Madhulika Gupta, Neerja
Description	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.
Abstract	Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations inRECQL4and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants inRECQL4 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 inRECQL4. 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.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6688877&blobtype=pdf
ISSN	21464596
Volume Number	8
DOI	10.1055/s-0039-1684017
PubMed Central reference number	PMC6688877
Issue Number	3
PubMed reference number	31406625
Journal	Journal of Pediatric Genetics [J Pediatr Genet]
e-ISSN	2146460X
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2019-04-09
Publisher Place	Stuttgart · New York
Access Restriction	Open
Rights License	© Thieme Medical Publishers
Subject Keyword	Rothmund–Thomson syndrome RECQL4 poikiloderma
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Pediatrics, Perinatology and Child Health