Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Zailong Qin; Jiasun Su; Mengting Li; Qi Yang; Shang Yi; Haiyang Zheng; Qiang Zhang; Fei Chen; Sheng Yi; Weiliang Lu; Wei Li; Limei Huang; Jing Xu; Yiping Shen; Jingsi Luo

doi:10.3389/fgene.2020.00592

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Front Genet. 2020 Jun 18:11:592. doi: 10.3389/fgene.2020.00592. eCollection 2020.

Authors

Zailong Qin¹, Jiasun Su¹, Mengting Li¹, Qi Yang¹, Shang Yi¹, Haiyang Zheng¹, Qiang Zhang¹, Fei Chen¹, Sheng Yi¹, Weiliang Lu¹, Wei Li¹, Limei Huang¹, Jing Xu², Yiping Shen^{1

3}, Jingsi Luo¹

Affiliations

¹ Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
² Department of Neonatology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
³ Department of Genetics, Harvard Medical School, Boston, MA, United States.

Abstract

CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Although the clinical phenotypes of probands are highly variable and typical symptoms such as coloboma and choanal atresia are not commonly manifested in this cohort, they all presented congenital heart defects. Of note, dyspnea is the most prominent symptom in all five neonatal patients, suggesting that dyspnea might be a phenotypic clue of CHARGE syndrome.

Keywords: CHARGE syndrome; CHD7; dyspnea; mutation; neonate.