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

Title
 Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome 
Authors
 Hyun-Ju Cho ; Mee Hyun Song ; Jae Young Choi ; Jinwoong Bok ; Un-Kyung Kim ; Jinwook Lee ; Jeongho Kim ; Soo-Young Choi 
Issue Date
2013
Journal Title
 Gene 
ISSN
 0378-1119 
Citation
 Gene, Vol.517(2) : 164~168, 2013 
Abstract
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/86615
DOI
10.1016/j.gene.2013.01.010
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Anatomy
1. 연구논문 > 1. College of Medicine > Dept. of Otorhinolaryngology
Yonsei Authors
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Link
 http://www.sciencedirect.com/science/article/pii/S0378111913000498
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