TY - JOUR
T1 - Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array
AU - Teshiba, Risa
AU - Masumoto, Kouji
AU - Esumi, Genshiro
AU - Nagata, Kouji
AU - Kinoshita, Yoshiaki
AU - Tajiri, Tatsuro
AU - Taguchi, Tomoaki
AU - Yamamoto, Ken
N1 - Funding Information:
We thank all patients and family members who participated in this study. We also thank T. Akinaga, M. Sonoda and K. Fukuyama for their technical services. This work was supported by KAKENHI (Grant-in-Aid for Scientific Research) on Priority Areas from the Ministry of Education, Culture, Sports, Science and Technology of Japan.
PY - 2011/2
Y1 - 2011/2
N2 - Purpose: 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. Conclusion: 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.
AB - Purpose: 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. Conclusion: 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.
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U2 - 10.1007/s00383-010-2778-z
DO - 10.1007/s00383-010-2778-z
M3 - Article
C2 - 21085971
AN - SCOPUS:78751646170
VL - 27
SP - 193
EP - 198
JO - Pediatric Surgery International
JF - Pediatric Surgery International
SN - 0179-0358
IS - 2
ER -