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Genetic overgrowth syndrome: A single center’s experience
J Genet Med 2018;15:64-71
Published online December 31, 2018;  https://doi.org/10.5734/JGM.2018.15.2.64
© 2018 Korean Society of Medical Genetics and Genomics.

Chong Kun Cheon1,*, Yoo-Mi Kim2, Ju Young Yoon1, and Young A Kim1

1Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea
2Department of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Korea
Chong Kun Cheon, M.D., Ph.D. http://orcid.org/0000-0002-8609-5826
Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, 20 Geumo-ro, Mulgeum-eup, Yangsan 50612, Korea.
Tel: +82-55-360-3158, Fax: +82-55-360-2181, E-mail: chongkun@pusan.ac.kr
Received May 25, 2018; Revised August 1, 2018; Accepted August 3, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Purpose: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were analyzed.
Materials and Methods: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively.
Results: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligation-dependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray.
Conclusion: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.
Keywords : Growth, Sotos syndrome, Beckwith-Wiedemann syndrome, Early diagnosis


December 2018, 15 (2)
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