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Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

 Hyun-Ju Cho  ;  Mee Hyun Song  ;  Soo-Young Choi  ;  Jeongho Kim  ;  Jinwook Lee  ;  Un-Kyung Kim  ;  Jinwoong Bok  ;  Jae Young Choi 
 GENE, Vol.517(2) : 164-168, 2013 
Journal Title
Issue Date
Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group/genetics* ; CHARGE Syndrome/genetics* ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 13/genetics ; Codon, Nonsense ; DNA Helicases/chemistry ; DNA Helicases/genetics* ; DNA Mutational Analysis* ; DNA-Binding Proteins/chemistry ; DNA-Binding Proteins/genetics* ; Humans ; Molecular Sequence Data ; Mutation, Missense ; Sequence Alignment ; Trisomy/genetics ; Trisomy 13 Syndrome
CHARGE syndrome ; Clinical diagnosis ; CHD7 gene ; Mutation ; Hearing loss
CHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsufficiency of the CHD7 gene. Heterozygous mutations in the CHD7 gene have been identified in approximately 60–70% of patients clinically diagnosed with CHARGE syndrome. Although there have been many reports on the mutational spectrum of the CHD7 gene in patients with CHARGE syndrome worldwide, little is known about this syndrome in the Korean population. In this study, three Korean patients with CHARGE syndrome including one patient with Patau syndrome were evaluated for genetic analysis of the CHD7 gene using direct sequencing of all 38 exons and the flanking intronic regions. One nonsense and two novel missense mutations were identified in the CHD7 gene. Clinical symptoms caused by the missense mutations were much milder compared to the nonsense mutation, confirming the previously determined genotype–phenotype correlation in CHARGE syndrome. Our study demonstrates the importance of mutational screening of CHD7 in patients who have been diagnosed with other syndromes but display clinical features of CHARGE syndrome.
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1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Bok, Jin Woong(복진웅) ORCID logo https://orcid.org/0000-0003-1958-1872
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
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