Abstract
Background
Sotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung’s disease (HSCR) and subsequent genetic analysis.
Methods
A 2-year-old boy with SoS experienced constipation since infancy and ultimately showed an aganglionic segment in the histopathologic examination, which was followed by exome-sequencing analysis.
Results
In the genetic test for SoS diagnosis, two novel mutations of NDS1, c.2465C>A (p.Ser822Tyr) and c.4347T>A (p.Cys1449*), were observed and verified by resequencing in the patient and his parents. In further whole-exome-sequencing analysis using the patient’s blood DNA, which was followed by a comparison analysis with the results of our previously reported genome-wide association study (GWAS) of HSCR, three genes (ZNF827, FGD2, and KCNJ12) with significance for HSCR from our previous GWAS were overlapped among the genes showing variants in the exome sequencing.
Conclusion
This is the first reported patient with SoS and HSCR. Further studies are required to determine whether there is a genetic relationship between SoS and HSCR.
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Acknowledgements
This work was supported by grants from the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT & Future Planning (2014R1A1A1005096), and by the Ministry of Education, Science and Technology (2009-0093822).
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Sio, C., Jung, K., Kim, JH. et al. Sotos syndrome associated with Hirschsprung’s disease: a new case and exome-sequencing analysis. Pediatr Res 82, 87–92 (2017). https://doi.org/10.1038/pr.2017.106
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DOI: https://doi.org/10.1038/pr.2017.106
