Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children
ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease...
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| Veröffentlicht in: | Human molecular genetics 2012-02, Vol.21 (4), p.765-775 |
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| creator | Flamein, Florence Riffault, Laure Muselet-Charlier, Céline Pernelle, Julie Feldmann, Delphine Jonard, Laurence Durand-Schneider, Anne-Marie Coulomb, Aurore Maurice, Michèle Nogee, Lawrence M. Inagaki, Nobuya Amselem, Serge Dubus, Jean Christophe Rigourd, Virginie Brémont, François Marguet, Christophe Brouard, Jacques de Blic, Jacques Clement, Annick Epaud, Ralph Guillot, Loïc |
| description | ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD. ABCA3 mutations were identified in 10 out of 47 patients, including 2 homozygous, 5 compound heterozygous and 3 heterozygous patients. SP-B and SP-C expression patterns varied across patients. Among patients with ABCA3 mutations, five died shortly after birth and five developed ILD (including one without NRD). Functional studies of p.D253H and p.T1173R mutations revealed that p.D253H and p.T1173R induced abnormal lamellar bodies. Additionally, p.T1173R increased IL-8 secretion in vitro. In conclusion, we identified new ABCA3 mutations in patients with life-threatening NRD and/or ILD. Two mutations associated with ILD acted via different pathophysiological mechanisms despite similar clinical phenotypes. |
| doi_str_mv | 10.1093/hmg/ddr508 |
| format | Article |
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ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD. ABCA3 mutations were identified in 10 out of 47 patients, including 2 homozygous, 5 compound heterozygous and 3 heterozygous patients. SP-B and SP-C expression patterns varied across patients. Among patients with ABCA3 mutations, five died shortly after birth and five developed ILD (including one without NRD). Functional studies of p.D253H and p.T1173R mutations revealed that p.D253H and p.T1173R induced abnormal lamellar bodies. Additionally, p.T1173R increased IL-8 secretion in vitro. In conclusion, we identified new ABCA3 mutations in patients with life-threatening NRD and/or ILD. Two mutations associated with ILD acted via different pathophysiological mechanisms despite similar clinical phenotypes.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddr508</identifier><identifier>PMID: 22068586</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>ATP-Binding Cassette Transporters - genetics ; Biological and medical sciences ; Bronchoalveolar Lavage Fluid - chemistry ; Child ; Cytokines - biosynthesis ; Female ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Human health and pathology ; Humans ; Life Sciences ; Lung Diseases, Interstitial - genetics ; Lung Diseases, Interstitial - metabolism ; Lung Diseases, Interstitial - pathology ; Lung Diseases, Interstitial - physiopathology ; Male ; Molecular and cellular biology ; Mutation - genetics ; Pedigree ; Pulmonology and respiratory tract</subject><ispartof>Human molecular genetics, 2012-02, Vol.21 (4), p.765-775</ispartof><rights>The Author 2011. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2011</rights><rights>2015 INIST-CNRS</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c503t-635d2334235e8ab55f84840e0c59c94d213c2e6f25db74d39ac0edf161a733043</citedby><cites>FETCH-LOGICAL-c503t-635d2334235e8ab55f84840e0c59c94d213c2e6f25db74d39ac0edf161a733043</cites><orcidid>0000-0001-9506-3968 ; 0000-0003-3830-1039 ; 0000-0003-3696-7814 ; 0000-0001-6853-7945</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,1584,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25544092$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22068586$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03829404$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Flamein, Florence</creatorcontrib><creatorcontrib>Riffault, Laure</creatorcontrib><creatorcontrib>Muselet-Charlier, Céline</creatorcontrib><creatorcontrib>Pernelle, Julie</creatorcontrib><creatorcontrib>Feldmann, Delphine</creatorcontrib><creatorcontrib>Jonard, Laurence</creatorcontrib><creatorcontrib>Durand-Schneider, Anne-Marie</creatorcontrib><creatorcontrib>Coulomb, Aurore</creatorcontrib><creatorcontrib>Maurice, Michèle</creatorcontrib><creatorcontrib>Nogee, Lawrence M.</creatorcontrib><creatorcontrib>Inagaki, Nobuya</creatorcontrib><creatorcontrib>Amselem, Serge</creatorcontrib><creatorcontrib>Dubus, Jean Christophe</creatorcontrib><creatorcontrib>Rigourd, Virginie</creatorcontrib><creatorcontrib>Brémont, François</creatorcontrib><creatorcontrib>Marguet, Christophe</creatorcontrib><creatorcontrib>Brouard, Jacques</creatorcontrib><creatorcontrib>de Blic, Jacques</creatorcontrib><creatorcontrib>Clement, Annick</creatorcontrib><creatorcontrib>Epaud, Ralph</creatorcontrib><creatorcontrib>Guillot, Loïc</creatorcontrib><title>Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD. ABCA3 mutations were identified in 10 out of 47 patients, including 2 homozygous, 5 compound heterozygous and 3 heterozygous patients. SP-B and SP-C expression patterns varied across patients. Among patients with ABCA3 mutations, five died shortly after birth and five developed ILD (including one without NRD). Functional studies of p.D253H and p.T1173R mutations revealed that p.D253H and p.T1173R induced abnormal lamellar bodies. Additionally, p.T1173R increased IL-8 secretion in vitro. In conclusion, we identified new ABCA3 mutations in patients with life-threatening NRD and/or ILD. 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ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD. ABCA3 mutations were identified in 10 out of 47 patients, including 2 homozygous, 5 compound heterozygous and 3 heterozygous patients. SP-B and SP-C expression patterns varied across patients. Among patients with ABCA3 mutations, five died shortly after birth and five developed ILD (including one without NRD). Functional studies of p.D253H and p.T1173R mutations revealed that p.D253H and p.T1173R induced abnormal lamellar bodies. Additionally, p.T1173R increased IL-8 secretion in vitro. In conclusion, we identified new ABCA3 mutations in patients with life-threatening NRD and/or ILD. Two mutations associated with ILD acted via different pathophysiological mechanisms despite similar clinical phenotypes.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>22068586</pmid><doi>10.1093/hmg/ddr508</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0001-9506-3968</orcidid><orcidid>https://orcid.org/0000-0003-3830-1039</orcidid><orcidid>https://orcid.org/0000-0003-3696-7814</orcidid><orcidid>https://orcid.org/0000-0001-6853-7945</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Human molecular genetics, 2012-02, Vol.21 (4), p.765-775 |
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| subjects | ATP-Binding Cassette Transporters - genetics Biological and medical sciences Bronchoalveolar Lavage Fluid - chemistry Child Cytokines - biosynthesis Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human health and pathology Humans Life Sciences Lung Diseases, Interstitial - genetics Lung Diseases, Interstitial - metabolism Lung Diseases, Interstitial - pathology Lung Diseases, Interstitial - physiopathology Male Molecular and cellular biology Mutation - genetics Pedigree Pulmonology and respiratory tract |
| title | Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children |
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