Clinical data and mutation analysis of two cases of CHARGE syndrome

VernacularTitle:CHARGE综合征两例及基因突变研究
Author: Jie ZHOU ¹ ; Bin GAO ; Yingni ZHOU ; Yueyue FU ; Fei SUN ; Ying XING ; Jie MING ; Qiuhe JI
Author Information

1. 西安
Keywords: CHARGE syndrome; CHD7 mutation; autosomal dominant inheritance disease
From: Chinese Journal of Endocrinology and Metabolism 2019;35(5):398-403
CountryChina
Language:Chinese
Abstract: Objective To analyze the clinical manifestations and possible gene mutation sites of Chinese patients in order to improve the clinician's understanding of CHARGE syndrome. Methods Clinical data were collected and blood samples were obtained from the proband of CHARGE syndrome and their relatives. The peripheral blood DNA was extracted and sequenced by PCR amplification. Mutation sites were verified by Sanger sequencing. Results For the first proband, a heterozygous mutation was detected in the intron 10 of CHD7 gene. His parents and brother did not have mutation. For the second proband, total repeat sequence in exon 7 of CHD7 gene was detected. His father carried the same mutation and his mother did not have mutation. Conclusion For the patients who are diagnosed with CHARGE syndrome based on the clinical manifestations, genetic mutation detection should be proceeded. It is useful for studying possible genetic pathogenesis and enhancing the awareness of clinicians.