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

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish
Pages (from-to)164-168
Number of pages5
JournalGene
Volume517
Issue number2
DOIs
StatePublished - 1 Apr 2013

Keywords

  • CHARGE syndrome
  • CHD7 gene
  • Clinical diagnosis
  • Hearing loss
  • Mutation

Fingerprint

Dive into the research topics of 'Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome'. Together they form a unique fingerprint.

Cite this