title: 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.
authors.affiliation: Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Gyeonggi, Republic of Korea.
authors.forename: Cherry Ann
authors.initials: CA
authors.lastname: Sio
authors.affiliation: Department of Surgery, Jeju National University Hospital, Jeju, Republic of Korea.
authors.forename: Kyuwhan
authors.initials: K
authors.lastname: Jung
authors.affiliation: Research Institute for Basic Science, Sogang University, Seoul, Republic of Korea.
authors.forename: Jeong-Hyun
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Seoul, Republic of Korea.
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.affiliation: Department of Pathology, Seoul National University Bundang Hospital, Seongnam, Gyeonggi, Republic of Korea.
authors.forename: Eun
authors.initials: E
authors.lastname: Shin
authors.affiliation: Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Gyeonggi, Republic of Korea.
authors.forename: Hyejin
authors.initials: H
authors.lastname: Jang
authors.affiliation: Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Gyeonggi, Republic of Korea.
authors.forename: Miok
authors.initials: M
authors.lastname: Yoon
authors.affiliation: Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Gyeonggi, Republic of Korea.
authors.forename: Huijeong
authors.initials: H
authors.lastname: Jang
authors.affiliation: Research Institute for Basic Science, Sogang University, Seoul, Republic of Korea.|Department of Life Science, Sogang University, Seoul, Republic of Korea.
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D002675:Child, Preschool; D004247:DNA / Q000097:blood; D059472:Exome; D005260:Female; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D058495:Sotos Syndrome / Q000150:complications / Q000235:genetics*
chemical_list: D004247:DNA