Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.
Identifieur interne : 000059 ( PubMed/Checkpoint ); précédent : 000058; suivant : 000060Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.
Auteurs : Da Hong [République populaire de Chine] ; Dan Dai [République populaire de Chine] ; Jing Liu [République populaire de Chine] ; Congcong Zhang [République populaire de Chine] ; Tingting Jin [République populaire de Chine] ; Yanyan Shi [République populaire de Chine] ; Gaoli Jiang [République populaire de Chine] ; Mei Mei [République populaire de Chine] ; Libo Wang [République populaire de Chine] ; Liling Qian [République populaire de Chine]Source :
- Italian journal of pediatrics [ 1824-7288 ] ; 2019.
Abstract
Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutations.
DOI: 10.1186/s13052-019-0710-2
PubMed: 31462320
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China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Liu, Jing" sort="Liu, Jing" uniqKey="Liu J" first="Jing" last="Liu">Jing Liu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Congcong" sort="Zhang, Congcong" uniqKey="Zhang C" first="Congcong" last="Zhang">Congcong Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Jin, Tingting" sort="Jin, Tingting" uniqKey="Jin T" first="Tingting" last="Jin">Tingting Jin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 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Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Qian, Liling" sort="Qian, Liling" uniqKey="Qian L" first="Liling" last="Qian">Liling Qian</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China. llqian@126.com.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 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uniqKey="Hong D" first="Da" last="Hong">Da Hong</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Dai, Dan" sort="Dai, Dan" uniqKey="Dai D" first="Dan" last="Dai">Dan Dai</name><affiliation wicri:level="1"><nlm:affiliation>Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Liu, Jing" sort="Liu, Jing" uniqKey="Liu J" first="Jing" last="Liu">Jing Liu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Congcong" sort="Zhang, Congcong" uniqKey="Zhang C" first="Congcong" last="Zhang">Congcong Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Jin, Tingting" sort="Jin, Tingting" uniqKey="Jin T" first="Tingting" last="Jin">Tingting Jin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Shi, Yanyan" sort="Shi, Yanyan" uniqKey="Shi Y" first="Yanyan" last="Shi">Yanyan Shi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Jiang, Gaoli" sort="Jiang, Gaoli" uniqKey="Jiang G" first="Gaoli" last="Jiang">Gaoli Jiang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Mei, Mei" sort="Mei, Mei" uniqKey="Mei M" first="Mei" last="Mei">Mei Mei</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Libo" sort="Wang, Libo" uniqKey="Wang L" first="Libo" last="Wang">Libo Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author><author><name sortKey="Qian, Liling" sort="Qian, Liling" uniqKey="Qian L" first="Liling" last="Qian">Liling Qian</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China. llqian@126.com.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102</wicri:regionArea><wicri:noRegion>201102</wicri:noRegion></affiliation></author></analytic><series><title level="j">Italian journal of pediatrics</title><idno type="eISSN">1824-7288</idno><imprint><date when="2019" type="published">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutations.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">31462320</PMID><DateRevised><Year>2020</Year><Month>02</Month><Day>26</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1824-7288</ISSN><JournalIssue CitedMedium="Internet"><Volume>45</Volume><Issue>1</Issue><PubDate><Year>2019</Year><Month>Aug</Month><Day>28</Day></PubDate></JournalIssue><Title>Italian journal of pediatrics</Title><ISOAbbreviation>Ital J Pediatr</ISOAbbreviation></Journal><ArticleTitle>Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.</ArticleTitle><Pagination><MedlinePgn>117</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13052-019-0710-2</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutations.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Six Chinese children with ILD heterozygous for SFTPC mutations were included. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. Subclones of SFTPC with novel mutations were generated and transiently transfected into A549 cells. The functional characterization of mutant surfactant protein C (SP-C) was evaluated by Western blotting and immunofluorescence.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The age of onset ranged from 7 days to 15 months. All cases required supplemental oxygen. Failure to thrive (5/6) was the most significant extra-pulmonary manifestation. Hydroxychloroquine was given as the long-term treatment of lung disease in four patients and two of them responded well. Three mutations were identified in six patients: four with I73T, one with D105G, one with Y113H. Mutations in three patients were inherited and three arised de novo. Western blotting revealed totally different band patterns between mutant SP-C (D105G and Y113H) and the wildtype. Immunofluorescence showed mutant SP-C (D105G) was scarcely trafficked to lamellar bodies but localized well to early endosomes, which was in marked contrast to the wildtype protein.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">SFTPC mutations were an important cause of childhood ILD in Chinese population. I73T was a common SFTPC mutation in Chinese ILD children associated with surfactant protein C mutations.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hong</LastName><ForeName>Da</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dai</LastName><ForeName>Dan</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Liu</LastName><ForeName>Jing</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Congcong</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jin</LastName><ForeName>Tingting</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shi</LastName><ForeName>Yanyan</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jiang</LastName><ForeName>Gaoli</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mei</LastName><ForeName>Mei</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Libo</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Qian</LastName><ForeName>Liling</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Respiratory Medicine, Children's Hospital of Fudan University, No.399 Wanyuan Road, Shanghai, 201102, China. llqian@126.com.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>8167150</GrantID><Agency>National Natural Science Foundation of China</Agency><Country></Country></Grant><Grant><GrantID>201450</GrantID><Agency>Development Fund for Shanghai talents</Agency><Country></Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2019</Year><Month>08</Month><Day>28</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Ital J Pediatr</MedlineTA><NlmUniqueID>101510759</NlmUniqueID><ISSNLinking>1720-8424</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Chinese</Keyword><Keyword MajorTopicYN="N">Interstitial lung diseases</Keyword><Keyword MajorTopicYN="N">Mutation</Keyword><Keyword 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Jin</name><name sortKey="Liu, Jing" sort="Liu, Jing" uniqKey="Liu J" first="Jing" last="Liu">Jing Liu</name><name sortKey="Mei, Mei" sort="Mei, Mei" uniqKey="Mei M" first="Mei" last="Mei">Mei Mei</name><name sortKey="Qian, Liling" sort="Qian, Liling" uniqKey="Qian L" first="Liling" last="Qian">Liling Qian</name><name sortKey="Shi, Yanyan" sort="Shi, Yanyan" uniqKey="Shi Y" first="Yanyan" last="Shi">Yanyan Shi</name><name sortKey="Wang, Libo" sort="Wang, Libo" uniqKey="Wang L" first="Libo" last="Wang">Libo Wang</name><name sortKey="Zhang, Congcong" sort="Zhang, Congcong" uniqKey="Zhang C" first="Congcong" last="Zhang">Congcong Zhang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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