Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset...
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| Veröffentlicht in: | Journal of human genetics 2008-06, Vol.53 (6), p.573-577 |
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| container_title | Journal of human genetics |
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| creator | Hennewig, Ulrike Hadzik, Berit Vogel, Markus Meissner, Thomas Goecke, Timm Peters, Hartmut Selzer, Georg Mayatepek, Ertan Hoehn, Thomas |
| description | Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung’s disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS. |
| doi_str_mv | 10.1007/s10038-008-0275-1 |
| format | Article |
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It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung’s disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-008-0275-1</identifier><identifier>PMID: 18340402</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Alveoli ; Amino Acid Sequence ; Autonomic nervous system ; Baby foods ; Base Sequence ; Biomedicine ; Congenital Hyperinsulinism - complications ; Congenital Hyperinsulinism - genetics ; DNA, Complementary - genetics ; Female ; Gene Expression ; Gene Function ; Gene Therapy ; Homeodomain Proteins - genetics ; Human Genetics ; Humans ; Hypoventilation ; Infant, Newborn ; Infant, Premature ; Molecular Medicine ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Neonates ; Neural crest ; Phenotypes ; Phox2b protein ; Polyalanine ; Premature babies ; Sequence Homology, Amino Acid ; Short Communication ; Sleep Apnea, Central - complications ; Sleep Apnea, Central - genetics ; Syndrome ; Transcription Factors - genetics ; Tumors</subject><ispartof>Journal of human genetics, 2008-06, Vol.53 (6), p.573-577</ispartof><rights>The Japan Society of Human Genetics and Springer 2008</rights><rights>The Japan Society of Human Genetics and Springer 2008.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c492t-234784e13dae3e9d98c637bf15627c36e4d821f260f3f6ea0e6de1549821d7e73</citedby><cites>FETCH-LOGICAL-c492t-234784e13dae3e9d98c637bf15627c36e4d821f260f3f6ea0e6de1549821d7e73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18340402$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hennewig, Ulrike</creatorcontrib><creatorcontrib>Hadzik, Berit</creatorcontrib><creatorcontrib>Vogel, Markus</creatorcontrib><creatorcontrib>Meissner, Thomas</creatorcontrib><creatorcontrib>Goecke, Timm</creatorcontrib><creatorcontrib>Peters, Hartmut</creatorcontrib><creatorcontrib>Selzer, Georg</creatorcontrib><creatorcontrib>Mayatepek, Ertan</creatorcontrib><creatorcontrib>Hoehn, Thomas</creatorcontrib><title>Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung’s disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.</description><subject>Alveoli</subject><subject>Amino Acid Sequence</subject><subject>Autonomic nervous system</subject><subject>Baby foods</subject><subject>Base Sequence</subject><subject>Biomedicine</subject><subject>Congenital Hyperinsulinism - complications</subject><subject>Congenital Hyperinsulinism - genetics</subject><subject>DNA, Complementary - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Homeodomain Proteins - genetics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Hypoventilation</subject><subject>Infant, Newborn</subject><subject>Infant, Premature</subject><subject>Molecular Medicine</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Neonates</subject><subject>Neural crest</subject><subject>Phenotypes</subject><subject>Phox2b protein</subject><subject>Polyalanine</subject><subject>Premature babies</subject><subject>Sequence Homology, Amino Acid</subject><subject>Short Communication</subject><subject>Sleep Apnea, Central - complications</subject><subject>Sleep Apnea, Central - genetics</subject><subject>Syndrome</subject><subject>Transcription Factors - genetics</subject><subject>Tumors</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkU1LxDAQhoMofv8AL1oQvFXznfYoi18geFHwFrLt1M3SpmuSKvvvzdrFBQ96SGaSeeadhBehE4IvCcbqKqSdFTnGaVElcrKF9glnIqeMvm5_5zwXRJI9dBDCHCeaKrqL9kjBOOaY7qPnSe_ewNlo2qwCF32Ks-Wi_0i5bU20vcvC0tW-7yD7tHG2qoK3LgytdTZ0mXWZyRYeIvjVoTEuHqGdxrQBjtfxEL3c3jxP7vPHp7uHyfVjXvGSxvRKrgoOhNUGGJR1WVSSqWlDhKSqYhJ4XVDSUIkb1kgwGGQNRPAy3dYKFDtEF6PuwvfvA4SoOxsqaFvjoB-CVlgVgkv-L0hxIaQoaALPf4HzfvAufUJTToUkSqoyUWSkKt-H4KHRC28745eaYL1yRo_O6OSMXjmjSeo5XSsP0w7qTcfaigTQEQiplDzxm9F_qZ6NTc7EwcOP6nz2RhOmOPsCJ0ujsA</recordid><startdate>20080601</startdate><enddate>20080601</enddate><creator>Hennewig, Ulrike</creator><creator>Hadzik, Berit</creator><creator>Vogel, Markus</creator><creator>Meissner, Thomas</creator><creator>Goecke, Timm</creator><creator>Peters, Hartmut</creator><creator>Selzer, Georg</creator><creator>Mayatepek, Ertan</creator><creator>Hoehn, Thomas</creator><general>Springer Japan</general><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>20080601</creationdate><title>Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant</title><author>Hennewig, Ulrike ; Hadzik, Berit ; Vogel, Markus ; Meissner, Thomas ; Goecke, Timm ; Peters, Hartmut ; Selzer, Georg ; Mayatepek, Ertan ; Hoehn, Thomas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c492t-234784e13dae3e9d98c637bf15627c36e4d821f260f3f6ea0e6de1549821d7e73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Alveoli</topic><topic>Amino Acid Sequence</topic><topic>Autonomic nervous system</topic><topic>Baby foods</topic><topic>Base Sequence</topic><topic>Biomedicine</topic><topic>Congenital Hyperinsulinism - complications</topic><topic>Congenital Hyperinsulinism - genetics</topic><topic>DNA, Complementary - genetics</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Homeodomain Proteins - genetics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Hypoventilation</topic><topic>Infant, Newborn</topic><topic>Infant, Premature</topic><topic>Molecular Medicine</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Neonates</topic><topic>Neural crest</topic><topic>Phenotypes</topic><topic>Phox2b protein</topic><topic>Polyalanine</topic><topic>Premature babies</topic><topic>Sequence Homology, Amino Acid</topic><topic>Short Communication</topic><topic>Sleep Apnea, Central - complications</topic><topic>Sleep Apnea, Central - genetics</topic><topic>Syndrome</topic><topic>Transcription Factors - genetics</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hennewig, Ulrike</creatorcontrib><creatorcontrib>Hadzik, Berit</creatorcontrib><creatorcontrib>Vogel, Markus</creatorcontrib><creatorcontrib>Meissner, Thomas</creatorcontrib><creatorcontrib>Goecke, Timm</creatorcontrib><creatorcontrib>Peters, Hartmut</creatorcontrib><creatorcontrib>Selzer, Georg</creatorcontrib><creatorcontrib>Mayatepek, Ertan</creatorcontrib><creatorcontrib>Hoehn, Thomas</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><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>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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 Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hennewig, Ulrike</au><au>Hadzik, Berit</au><au>Vogel, Markus</au><au>Meissner, Thomas</au><au>Goecke, Timm</au><au>Peters, Hartmut</au><au>Selzer, Georg</au><au>Mayatepek, Ertan</au><au>Hoehn, Thomas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2008-06-01</date><risdate>2008</risdate><volume>53</volume><issue>6</issue><spage>573</spage><epage>577</epage><pages>573-577</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung’s disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>18340402</pmid><doi>10.1007/s10038-008-0275-1</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Alveoli Amino Acid Sequence Autonomic nervous system Baby foods Base Sequence Biomedicine Congenital Hyperinsulinism - complications Congenital Hyperinsulinism - genetics DNA, Complementary - genetics Female Gene Expression Gene Function Gene Therapy Homeodomain Proteins - genetics Human Genetics Humans Hypoventilation Infant, Newborn Infant, Premature Molecular Medicine Molecular Sequence Data Mutation Mutation, Missense Neonates Neural crest Phenotypes Phox2b protein Polyalanine Premature babies Sequence Homology, Amino Acid Short Communication Sleep Apnea, Central - complications Sleep Apnea, Central - genetics Syndrome Transcription Factors - genetics Tumors |
| title | Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant |
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