A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Abstract

INTRODUCTION:

Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians but is rarer in the Chinese population, because mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

OBJECTIVES:

To elucidate the causative role of a novel compound heterozygous mutation of CF.

MATERIALS AND METHODS:

In this study, clinical samples were obtained from two siblings with recurrent airway infections, clubbed fingers, salt-sweat and failure to gain weight in a non-consanguineous Chinese family. Next-generation sequencing was performed on the 27 coding exons of CFTR in both children, with confirmation by Sanger sequencing.

RESULTS:

Next-generation sequencing showed the same compound heterozygous CFTR mutation (c.865A>T p.Arg289X and c.3651_3652insAAAT p.Tyr1219X) in both children.

CONCLUSIONS:

As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. As c865A>T is not currently listed in the "Cystic Fibrosis Mutation Database", this information about CF in a Chinese population is of interest.

• Authors: Yingjun Xie, Xueqiong Huang, Yujian Liang, Lingling Xu, Yuxin Pei, Yucai Cheng, Lidan Zhang, Wen Tang
• Journal: The clinical respiratory journal (Clin Respir J) Vol. 11 Issue 6 Pg. 696-702 (Nov 2017) ISSN: 1752-699X [Electronic] England
• PMID: 26471113 (Publication Type: Journal Article)
• Copyright: © 2015 John Wiley & Sons Ltd.

Chemical References

• CFTR protein, human
• Cystic Fibrosis Transmembrane Conductance Regulator

Topics

• Adolescent
• Alleles
• Asian People (genetics)
• Child
• Child, Preschool
• Cystic Fibrosis (diagnosis, diagnostic imaging, epidemiology, genetics)
• Cystic Fibrosis Transmembrane Conductance Regulator (genetics)
• Female
• Heterozygote
• High-Throughput Nucleotide Sequencing (methods)
• Humans
• Incidence
• Infant
• Male
• Mutation
• Phenotype
• Tomography, X-Ray Computed (methods)
• Young Adult