title: Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations.
abstract: OBJECTIVE
  Kartagener syndrome (KS), also known as visceral inversion-nasosinusitis-bronchiectasis syndrome, or familial bronchiectasis, is an autosomal recessive inherited disease. In this study, through two cases of KS, we aimed to assess the clinical and genetic characteristics of KS caused by DNAH5 mutations.
  
  
  METHODS
  The two cases of KS from the same family underwent extensive clinical assessments, with next-generation DNA sequencing and bioinformatics analysis to identify pathogenic genes. In addition, Sanger sequencing was used to verify the pedigrees.
  
  
  RESULTS
  The present study employed a directional capture strategy for hereditary disease screening, which correctly identified the virulence sites in the pedigree, and facilitated the differential diagnosis among multiple genes. Two novel mutations were detected in DNAH5: c.7778C>T (missense mutation) and c.13729G>A (nonsense mutation). They were not found in dbSNP, 1000 Genomes, and ExAC.
  
  
  CONCLUSIONS
  These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of KS, providing families with genetic counseling and prenatal diagnosis.
authors.affiliation: Children's Medical Center, People's Hospital, Changsha, Hunan Province, China, 410005.
authors.forename: Xuan
authors.initials: X
authors.lastname: Xu
authors.affiliation: Children's Medical Center, People's Hospital, Changsha, Hunan Province, China, 410005. gongp246@163.com.
authors.forename: Ping
authors.initials: P
authors.lastname: Gong
authors.affiliation: Pediatric orthopedics, People's Hospital, Changsha, Hunan Province, China, 410005.
authors.forename: Jie
authors.initials: J
authors.lastname: Wen
mesh_terms: D056444:Axonemal Dyneins / Q000235:genetics*; D001987:Bronchiectasis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D007619:Kartagener Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D056444:Axonemal Dyneins; C497507:DNAH5 protein, human
keywords: DNAH5; Gene sequencing; Kartagener syndrome; Mutation; Precision medicine; Visceral inversion