Genetic basis for childhood interstitial lung disease among Japanese infants and children
Background Genetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients. Methods The study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) an...
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| Veröffentlicht in: | Pediatric research 2018-02, Vol.83 (2), p.477-483 |
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| creator | Hayasaka, Itaru Cho, Kazutoshi Akimoto, Takuma Ikeda, Masahiko Uzuki, Yutaka Yamada, Masafumi Nakata, Koh Furuta, Itsuko Ariga, Tadashi Minakami, Hisanori |
| description | Background
Genetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients.
Methods
The study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) and hypothyroidism, respectively. Analyses of genetic variants were performed in all 62 patients for
SFTPC
and
ABCA3
, in all 21 PH patients for
FOXF1
, and in a limited number of patients for
NKX2.1
.
Results
Causative genetic variants for chILD were identified in 11 (18%) patients:
SFTPC
variants in six,
NKX2.1
variants in three, and
FOXF1
variants in two patients. No patients had
ABCA3
variants. All three and two patients with
NKX2.1
variants had hypothyroidism and developmental delay, respectively. We found six novel variants in this study.
Conclusion
Mutations in
SFTPC
,
NKX2.1
, and
FOXF1
were identified among Japanese infants and children with chILD, whereas ABCA3 mutations were rare. |
| doi_str_mv | 10.1038/pr.2017.217 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2018017083</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2018017083</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4167-febe70aab3f7dc3e4cd25523e3c1b58e82cbe62090dfa25deb613be41aaf84d03</originalsourceid><addsrcrecordid>eNptkEtLxDAURoMozvhYuZeAG0E75tFHupRBR2XAjS5clTS5ncnQpjVpF_57M3ZUEFfhI-d-93IQOqNkRgkXN52bMUKzGaPZHprShJOIxHG2j6aEcBrxPBcTdOT9hhAaJyI-RBOWJ2meCDpFbwuw0BuFS-mNx1XrsFqbWq_bVmNje3C-N72RNa4Hu8LaeJAesGzakJ5kJy2EaGwlbe-xtHocd2BP0EElaw-nu_cYvd7fvcwfouXz4nF-u4xUTNMsqqCEjEhZ8irTikOsNEsSxoErWiYCBFMlpIzkRFeSJRrKlPISYiplJWJN-DG6HHs7174P4PuiMV5BXYfT2sEXwY0IeojgAb34g27awdlw3ZbKCA-GWKCuRkq51nsHVdE500j3UVBSbI2H_MUXwXigz3edQ9mA_mG_FQfgegR8-LIrcL9L_-v7BKTbiug</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2017030012</pqid></control><display><type>article</type><title>Genetic basis for childhood interstitial lung disease among Japanese infants and children</title><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Springer Nature - Complete Springer Journals</source><source>Alma/SFX Local Collection</source><creator>Hayasaka, Itaru ; Cho, Kazutoshi ; Akimoto, Takuma ; Ikeda, Masahiko ; Uzuki, Yutaka ; Yamada, Masafumi ; Nakata, Koh ; Furuta, Itsuko ; Ariga, Tadashi ; Minakami, Hisanori</creator><creatorcontrib>Hayasaka, Itaru ; Cho, Kazutoshi ; Akimoto, Takuma ; Ikeda, Masahiko ; Uzuki, Yutaka ; Yamada, Masafumi ; Nakata, Koh ; Furuta, Itsuko ; Ariga, Tadashi ; Minakami, Hisanori</creatorcontrib><description>Background
Genetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients.
Methods
The study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) and hypothyroidism, respectively. Analyses of genetic variants were performed in all 62 patients for
SFTPC
and
ABCA3
, in all 21 PH patients for
FOXF1
, and in a limited number of patients for
NKX2.1
.
Results
Causative genetic variants for chILD were identified in 11 (18%) patients:
SFTPC
variants in six,
NKX2.1
variants in three, and
FOXF1
variants in two patients. No patients had
ABCA3
variants. All three and two patients with
NKX2.1
variants had hypothyroidism and developmental delay, respectively. We found six novel variants in this study.
Conclusion
Mutations in
SFTPC
,
NKX2.1
, and
FOXF1
were identified among Japanese infants and children with chILD, whereas ABCA3 mutations were rare.</description><identifier>ISSN: 0031-3998</identifier><identifier>EISSN: 1530-0447</identifier><identifier>DOI: 10.1038/pr.2017.217</identifier><identifier>PMID: 29569581</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>692/308/3187 ; 692/420/2489 ; 692/699/1785 ; 692/700/478/174 ; Babies ; Childhood ; Children & youth ; clinical-investigation ; Genetics ; Lung diseases ; Medicine ; Medicine & Public Health ; Mutation ; Pediatric Surgery ; Pediatrics ; Treatment resistance</subject><ispartof>Pediatric research, 2018-02, Vol.83 (2), p.477-483</ispartof><rights>International Pediatric Research Foundation, Inc. 2018</rights><rights>Copyright Nature Publishing Group Feb 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4167-febe70aab3f7dc3e4cd25523e3c1b58e82cbe62090dfa25deb613be41aaf84d03</citedby><cites>FETCH-LOGICAL-c4167-febe70aab3f7dc3e4cd25523e3c1b58e82cbe62090dfa25deb613be41aaf84d03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/pr.2017.217$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/pr.2017.217$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29569581$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hayasaka, Itaru</creatorcontrib><creatorcontrib>Cho, Kazutoshi</creatorcontrib><creatorcontrib>Akimoto, Takuma</creatorcontrib><creatorcontrib>Ikeda, Masahiko</creatorcontrib><creatorcontrib>Uzuki, Yutaka</creatorcontrib><creatorcontrib>Yamada, Masafumi</creatorcontrib><creatorcontrib>Nakata, Koh</creatorcontrib><creatorcontrib>Furuta, Itsuko</creatorcontrib><creatorcontrib>Ariga, Tadashi</creatorcontrib><creatorcontrib>Minakami, Hisanori</creatorcontrib><title>Genetic basis for childhood interstitial lung disease among Japanese infants and children</title><title>Pediatric research</title><addtitle>Pediatr Res</addtitle><addtitle>Pediatr Res</addtitle><description>Background
Genetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients.
Methods
The study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) and hypothyroidism, respectively. Analyses of genetic variants were performed in all 62 patients for
SFTPC
and
ABCA3
, in all 21 PH patients for
FOXF1
, and in a limited number of patients for
NKX2.1
.
Results
Causative genetic variants for chILD were identified in 11 (18%) patients:
SFTPC
variants in six,
NKX2.1
variants in three, and
FOXF1
variants in two patients. No patients had
ABCA3
variants. All three and two patients with
NKX2.1
variants had hypothyroidism and developmental delay, respectively. We found six novel variants in this study.
Conclusion
Mutations in
SFTPC
,
NKX2.1
, and
FOXF1
were identified among Japanese infants and children with chILD, whereas ABCA3 mutations were rare.</description><subject>692/308/3187</subject><subject>692/420/2489</subject><subject>692/699/1785</subject><subject>692/700/478/174</subject><subject>Babies</subject><subject>Childhood</subject><subject>Children & youth</subject><subject>clinical-investigation</subject><subject>Genetics</subject><subject>Lung diseases</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Pediatric Surgery</subject><subject>Pediatrics</subject><subject>Treatment resistance</subject><issn>0031-3998</issn><issn>1530-0447</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNptkEtLxDAURoMozvhYuZeAG0E75tFHupRBR2XAjS5clTS5ncnQpjVpF_57M3ZUEFfhI-d-93IQOqNkRgkXN52bMUKzGaPZHprShJOIxHG2j6aEcBrxPBcTdOT9hhAaJyI-RBOWJ2meCDpFbwuw0BuFS-mNx1XrsFqbWq_bVmNje3C-N72RNa4Hu8LaeJAesGzakJ5kJy2EaGwlbe-xtHocd2BP0EElaw-nu_cYvd7fvcwfouXz4nF-u4xUTNMsqqCEjEhZ8irTikOsNEsSxoErWiYCBFMlpIzkRFeSJRrKlPISYiplJWJN-DG6HHs7174P4PuiMV5BXYfT2sEXwY0IeojgAb34g27awdlw3ZbKCA-GWKCuRkq51nsHVdE500j3UVBSbI2H_MUXwXigz3edQ9mA_mG_FQfgegR8-LIrcL9L_-v7BKTbiug</recordid><startdate>20180201</startdate><enddate>20180201</enddate><creator>Hayasaka, Itaru</creator><creator>Cho, Kazutoshi</creator><creator>Akimoto, Takuma</creator><creator>Ikeda, Masahiko</creator><creator>Uzuki, Yutaka</creator><creator>Yamada, Masafumi</creator><creator>Nakata, Koh</creator><creator>Furuta, Itsuko</creator><creator>Ariga, Tadashi</creator><creator>Minakami, Hisanori</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20180201</creationdate><title>Genetic basis for childhood interstitial lung disease among Japanese infants and children</title><author>Hayasaka, Itaru ; Cho, Kazutoshi ; Akimoto, Takuma ; Ikeda, Masahiko ; Uzuki, Yutaka ; Yamada, Masafumi ; Nakata, Koh ; Furuta, Itsuko ; Ariga, Tadashi ; Minakami, Hisanori</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4167-febe70aab3f7dc3e4cd25523e3c1b58e82cbe62090dfa25deb613be41aaf84d03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>692/308/3187</topic><topic>692/420/2489</topic><topic>692/699/1785</topic><topic>692/700/478/174</topic><topic>Babies</topic><topic>Childhood</topic><topic>Children & youth</topic><topic>clinical-investigation</topic><topic>Genetics</topic><topic>Lung diseases</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Pediatric Surgery</topic><topic>Pediatrics</topic><topic>Treatment resistance</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hayasaka, Itaru</creatorcontrib><creatorcontrib>Cho, Kazutoshi</creatorcontrib><creatorcontrib>Akimoto, Takuma</creatorcontrib><creatorcontrib>Ikeda, Masahiko</creatorcontrib><creatorcontrib>Uzuki, Yutaka</creatorcontrib><creatorcontrib>Yamada, Masafumi</creatorcontrib><creatorcontrib>Nakata, Koh</creatorcontrib><creatorcontrib>Furuta, Itsuko</creatorcontrib><creatorcontrib>Ariga, Tadashi</creatorcontrib><creatorcontrib>Minakami, Hisanori</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hayasaka, Itaru</au><au>Cho, Kazutoshi</au><au>Akimoto, Takuma</au><au>Ikeda, Masahiko</au><au>Uzuki, Yutaka</au><au>Yamada, Masafumi</au><au>Nakata, Koh</au><au>Furuta, Itsuko</au><au>Ariga, Tadashi</au><au>Minakami, Hisanori</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic basis for childhood interstitial lung disease among Japanese infants and children</atitle><jtitle>Pediatric research</jtitle><stitle>Pediatr Res</stitle><addtitle>Pediatr Res</addtitle><date>2018-02-01</date><risdate>2018</risdate><volume>83</volume><issue>2</issue><spage>477</spage><epage>483</epage><pages>477-483</pages><issn>0031-3998</issn><eissn>1530-0447</eissn><abstract>Background
Genetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients.
Methods
The study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) and hypothyroidism, respectively. Analyses of genetic variants were performed in all 62 patients for
SFTPC
and
ABCA3
, in all 21 PH patients for
FOXF1
, and in a limited number of patients for
NKX2.1
.
Results
Causative genetic variants for chILD were identified in 11 (18%) patients:
SFTPC
variants in six,
NKX2.1
variants in three, and
FOXF1
variants in two patients. No patients had
ABCA3
variants. All three and two patients with
NKX2.1
variants had hypothyroidism and developmental delay, respectively. We found six novel variants in this study.
Conclusion
Mutations in
SFTPC
,
NKX2.1
, and
FOXF1
were identified among Japanese infants and children with chILD, whereas ABCA3 mutations were rare.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>29569581</pmid><doi>10.1038/pr.2017.217</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Pediatric research, 2018-02, Vol.83 (2), p.477-483 |
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| language | eng |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Springer Nature - Complete Springer Journals; Alma/SFX Local Collection |
| subjects | 692/308/3187 692/420/2489 692/699/1785 692/700/478/174 Babies Childhood Children & youth clinical-investigation Genetics Lung diseases Medicine Medicine & Public Health Mutation Pediatric Surgery Pediatrics Treatment resistance |
| title | Genetic basis for childhood interstitial lung disease among Japanese infants and children |
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