Open AccessA new compound heterozygous CFTR mutation in a C hinese family with cystic fibrosis
Author(s) -
Xie Yingjun,
Huang Xueqiong,
Liang Yujian,
Xu Lingling,
Pei Yuxin,
Cheng Yucai,
Zhang Lidan,
Tang Wen
Publication year - 2017
Publication title -
the clinical respiratory journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.789
H-Index - 33
eISSN - 1752-699X
pISSN - 1752-6981
DOI - 10.1111/crj.12401
Subject(s) - cystic fibrosis , compound heterozygosity , sanger sequencing , cystic fibrosis transmembrane conductance regulator , mutation , medicine , genetics , exon , population , gene , heterozygote advantage , newborn screening , microbiology and biotechnology , biology , genotype , environmental health
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.