Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis
Joint Authors
Chen, Huaiyong
Shao, Hongxia
Hua, Jingna
Wu, Qi
Li, Xiaoge
Zhang, Ming
Wang, Herong
Wu, Junping
Xu, Long
Xie, Yi
Li, Li
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-07
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Cystic fibrosis (CF) is one of the most common autosomal recessive disorders among Caucasians of Northern European descent but is uncommon in the Chinese population.
Objectives.
To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family.
Materials and Methods.
Clinical samples were obtained from a Chinese family, the brother and sister with recurrent airway infections, hypoxemia and obstructive ventilatory impairment, sinusitis, clubbed fingers, salty sweat, and nasal polyposis.
We performed whole-exome sequencing on the family and validated all potential variants by Sanger sequencing.
Results.
Next-generation sequencing showed a novel compound heterozygous CFTR mutation (c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗) which resulted in CF in the family.
Conclusions.
As this mutation is consistent with the observed clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that their CF phenotypes are caused by the compound heterozygous mutation, c.400 A > G p.Arg134Gly and c.3484 C > T p.Arg1162∗.
As c.400 A > G is not currently listed in the Cystic Fibrosis Mutation Database, this information, regarding the CF-causing mutations in two Chinese patients, is of interest.
American Psychological Association (APA)
Shao, Hongxia& Hua, Jingna& Wu, Qi& Li, Xiaoge& Zhang, Ming& Wang, Herong…[et al.]. 2020. Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis. Canadian Respiratory Journal،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1152178
Modern Language Association (MLA)
Shao, Hongxia…[et al.]. Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis. Canadian Respiratory Journal No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1152178
American Medical Association (AMA)
Shao, Hongxia& Hua, Jingna& Wu, Qi& Li, Xiaoge& Zhang, Ming& Wang, Herong…[et al.]. Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis. Canadian Respiratory Journal. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1152178
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1152178