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Whole Exome Sequencing to Identify a Novel Mutation in SFTPA2 Associated with Familial Idiopathic Pulmonary Fibrosis
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A1071 - Whole Exome Sequencing to Identify a Novel Mutation in SFTPA2 Associated with Familial Idiopathic Pulmonary Fibrosis
Author Block: L. Liu1, H. Luo2; 1The Second Xiangya Hospital of Central South University, Changsha, China, 2The second Xiangya Hospital of Central South University, ChangSha HuNan, China.
Background: Idiopathic pulmonary fibrosis (IPF) is a common category of idiopathic interstitial lung disease, it is charactered by progressive dyspnea, interstitial infiltrates and restrictive ventilatory dysfunction on imaging and lung function testing, respectively. At present, IPF was caused by surrounding factors and genetic factors. There are at least 7 genes have been identified in IPF patients with autosomal dominant mode and incomplete penetrance ,such as TERT,SFTPA2,SFTPC. In this study, we want to apply whole exome sequencing to identify the genetific factors of a IPF family and make some contributions to the genetic consulting of this family.
Method: After collecting the clinical data and peripheral blood specimens of patients, we extract the genomic DNA of the two patients and perform the whole exome sequencing, by using public database(TGP database ,dbSNP database and ESP database) filtering combined with
IPF-related genes screening, to find the possible mutation . Sanger sequencing and PCR were applied to comfirm the co-seperation and exclude the polymorphism. In the end, bioinformation analysis was performed to predict the mutation.
Result: We identity a novel missense mutation (c.554C>T /p.A185V) of SFTPA2 by WES,public database filtering,mutation screening and bioinformatics analysis.
Conclusion: (1) This research identity a novel mutation c.554C>T (p.A185V) in SFTPA2 in a FIP pedigree,which haven’t been reported before. The consequence expands the mutations of SFTPA2 and provides a certain theoretical basis for genetic couseling for this family. (2) Whole exome sequencing combined with IPF-related genes is effective and accuracy methods in detecting the genetic factors of IPF family.
Author Block: L. Liu1, H. Luo2; 1The Second Xiangya Hospital of Central South University, Changsha, China, 2The second Xiangya Hospital of Central South University, ChangSha HuNan, China.
Background: Idiopathic pulmonary fibrosis (IPF) is a common category of idiopathic interstitial lung disease, it is charactered by progressive dyspnea, interstitial infiltrates and restrictive ventilatory dysfunction on imaging and lung function testing, respectively. At present, IPF was caused by surrounding factors and genetic factors. There are at least 7 genes have been identified in IPF patients with autosomal dominant mode and incomplete penetrance ,such as TERT,SFTPA2,SFTPC. In this study, we want to apply whole exome sequencing to identify the genetific factors of a IPF family and make some contributions to the genetic consulting of this family.
Method: After collecting the clinical data and peripheral blood specimens of patients, we extract the genomic DNA of the two patients and perform the whole exome sequencing, by using public database(TGP database ,dbSNP database and ESP database) filtering combined with
IPF-related genes screening, to find the possible mutation . Sanger sequencing and PCR were applied to comfirm the co-seperation and exclude the polymorphism. In the end, bioinformation analysis was performed to predict the mutation.
Result: We identity a novel missense mutation (c.554C>T /p.A185V) of SFTPA2 by WES,public database filtering,mutation screening and bioinformatics analysis.
Conclusion: (1) This research identity a novel mutation c.554C>T (p.A185V) in SFTPA2 in a FIP pedigree,which haven’t been reported before. The consequence expands the mutations of SFTPA2 and provides a certain theoretical basis for genetic couseling for this family. (2) Whole exome sequencing combined with IPF-related genes is effective and accuracy methods in detecting the genetic factors of IPF family.
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