Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Abstract:

:BackgroundSotos 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.MethodsA 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.ResultsIn 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.ConclusionThis 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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Sio CA,Jung K,Kim JH,Cheong HS,Shin E,Jang H,Yoon M,Jang H,Shin HD

doi

10.1038/pr.2017.106

subject

Has Abstract

pub_date

2017-07-01 00:00:00

pages

87-92

issue

1

eissn

0031-3998

issn

1530-0447

pii

pr2017106

journal_volume

82

pub_type

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