title: Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.
abstract: OBJECTIVE
  Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm associated with pulmonary hypoplasia. Although genetic factors have been suggested to play a role, the etiology of CDH is still largely unknown. In this study, we analyzed copy number variants (CNVs) using a single-nucleotide polymorphism (SNP) array to examine whether microdeletions contribute to the pathogenesis of this disease.
  
  
  METHODS
  A total of 28 CDH patients, including 24 isolated and 4 non-isolated cases, were available. We performed CNV analysis using high-resolution SNP arrays (370K, 550K, 660K; Illumina Inc.) and CNstream software. Deletions in loci that have been suggested in previous studies to contain candidate genes affecting CDH were analyzed.
  
  
  RESULTS
  We detected 335, 6 and 133 deletions specific for patients in 14 (350K array), 3 (550K) and 11 (660K) cases, respectively. Among these deletions, no segments included the previously suggested candidate genes with the exception of an 18-kb deletion observed in the candidate locus 6q27 in two non-isolated patients. This deleted region contains exon 4 of the t-complex-associated-testis-expressed 3 (TCTE3) gene.
  
  
  CONCLUSIONS
  Because TCTE3 encodes a putative light chain of the outer dynein arm of cilia and human diseases caused by ciliary dysfunction show various phenotypes including skeletal defect, TCTE3 may be a genetic candidate influencing CDH.
authors.affiliation: Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Risa
authors.initials: R
authors.lastname: Teshiba
authors.forename: Kouji
authors.initials: K
authors.lastname: Masumoto
authors.forename: Genshiro
authors.initials: G
authors.lastname: Esumi
authors.forename: Kouji
authors.initials: K
authors.lastname: Nagata
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kinoshita
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Tajiri
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Taguchi
authors.forename: Ken
authors.initials: K
authors.lastname: Yamamoto
mesh_terms: D056445:Cytoplasmic Dyneins / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004398:Dyneins; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006548:Hernia, Diaphragmatic / Q000235:genetics / Q000378:metabolism; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D020641:Polymorphism, Single Nucleotide
chemical_list: D056445:Cytoplasmic Dyneins; D004247:DNA; D004398:Dyneins; C533377:DYNLT2 protein, human