title: A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To elucidate the causative role of a novel compound heterozygous mutation of CF.
  
  
  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.affiliation: Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Yingjun
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Xueqiong
authors.initials: X
authors.lastname: Huang
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Yujian
authors.initials: Y
authors.lastname: Liang
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Lingling
authors.initials: L
authors.lastname: Xu
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Pei
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Yucai
authors.initials: Y
authors.lastname: Cheng
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Lidan
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D014057:Tomography, X-Ray Computed / Q000379:methods; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR - Chinese family - cystic fibrosis - compound heterozygous mutation - gene mutation - heterozygosity - next-generation sequencing