View Full Text
Article as PDF
Print this Page
Export to Citation
Pubmed
PMC
YouTube
Google Scholar
Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases
2023; 43(3): 223-224
Article
Brief Communication
Ann Lab Med 2015; 35(3): 362-365
Published online May 1, 2015 https://doi.org/10.3343/alm.2015.35.3.362
Copyright © Korean Society for Laboratory Medicine.
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Mi-Ae Jang, M.D.1,*, Taeheon Lee, Ph.D.2, Junnam Lee, M.S.2, Eun-Hae Cho, M.D.2, and Chang-Seok Ki, M.D.1
Department of Laboratory Medicine and Genetics1, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Green Cross Genome2, Yongin; Korea
Correspondence to: Chang-Seok Ki
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 135-710, Korea
Tel: +82-2-3410-2709
Fax: +82-2-3410-2719
E-mail: changski@skku.edu
Eun-Hae Cho
Green Cross Genome, 314 Bojung-dong, Giheung-gu, Yongin 446-913, Korea
Tel: +82-31-260-9216
Fax: +82-31-260-9638
E-mail:ehcho@greencross.com
*Current address: Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea
Received: September 18, 2014; Revised: December 18, 2014; Accepted: March 13, 2015
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea.
Keywords: Exome, PAX3, Waardenburg syndrome