COL4A1 Mutation in Preterm Intraventricular Hemorrhage
Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1 , are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizy...
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| Veröffentlicht in: | The Journal of pediatrics 2009-11, Vol.155 (5), p.743-745 |
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| container_title | The Journal of pediatrics |
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| creator | Bilguvar, Kaya, MD DiLuna, Michael L., MD Bizzarro, Matthew J., MD Bayri, Yasar, MD Schneider, Karen C., MPH Lifton, Richard P., MD, PhD Gunel, Murat, MD Ment, Laura R., MD |
| description | Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1 , are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens. |
| doi_str_mv | 10.1016/j.jpeds.2009.04.014 |
| format | Article |
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Mutations in the type IV procollagen gene, COL4A1 , are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2009.04.014</identifier><identifier>PMID: 19840616</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>Maryland Heights, MO: Mosby, Inc</publisher><subject>Biological and medical sciences ; Cerebral Hemorrhage - diagnostic imaging ; Cerebral Hemorrhage - genetics ; Collagen Type IV - genetics ; Diseases in Twins - diagnostic imaging ; Diseases in Twins - genetics ; Female ; Follow-Up Studies ; Gene Expression Regulation, Developmental ; General aspects ; Genetic Predisposition to Disease ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases - diagnostic imaging ; Infant, Premature, Diseases - genetics ; Male ; Medical sciences ; Mutation ; Neurology ; Pediatrics ; Pregnancy ; Twins, Dizygotic ; Ultrasonography, Doppler, Transcranial ; Vascular diseases and vascular malformations of the nervous system</subject><ispartof>The Journal of pediatrics, 2009-11, Vol.155 (5), p.743-745</ispartof><rights>Mosby, Inc.</rights><rights>2009 Mosby, Inc.</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c574t-346357ec0873c8d0576899021f7c25cade23ee35b4a30596003c489a85583f23</citedby><cites>FETCH-LOGICAL-c574t-346357ec0873c8d0576899021f7c25cade23ee35b4a30596003c489a85583f23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0022347609003734$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22059392$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19840616$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bilguvar, Kaya, MD</creatorcontrib><creatorcontrib>DiLuna, Michael L., MD</creatorcontrib><creatorcontrib>Bizzarro, Matthew J., MD</creatorcontrib><creatorcontrib>Bayri, Yasar, MD</creatorcontrib><creatorcontrib>Schneider, Karen C., MPH</creatorcontrib><creatorcontrib>Lifton, Richard P., MD, PhD</creatorcontrib><creatorcontrib>Gunel, Murat, MD</creatorcontrib><creatorcontrib>Ment, Laura R., MD</creatorcontrib><creatorcontrib>Pacifier and Breastfeeding Trial Group</creatorcontrib><title>COL4A1 Mutation in Preterm Intraventricular Hemorrhage</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1 , are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens.</description><subject>Biological and medical sciences</subject><subject>Cerebral Hemorrhage - diagnostic imaging</subject><subject>Cerebral Hemorrhage - genetics</subject><subject>Collagen Type IV - genetics</subject><subject>Diseases in Twins - diagnostic imaging</subject><subject>Diseases in Twins - genetics</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Gene Expression Regulation, Developmental</subject><subject>General aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Gestational Age</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Infant, Premature</subject><subject>Infant, Premature, Diseases - diagnostic imaging</subject><subject>Infant, Premature, Diseases - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Pediatrics</subject><subject>Pregnancy</subject><subject>Twins, Dizygotic</subject><subject>Ultrasonography, Doppler, Transcranial</subject><subject>Vascular diseases and vascular malformations of the nervous system</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkklvFDEQhS0EIkPgFyChvgCnacpLezkQKRoBiTQoSORuOe7qxE0vg909Uv49bmYUlgNc7IO_V_Vcrwh5SaGkQOW7tmx3WKeSAZgSRAlUPCIrCkatpeb8MVkBMLbmQskT8iylFjIoAJ6SE2q0AEnlisjN1Vac0-LzPLkpjEMRhuJLxAljX1wOU3R7zGfwc-dicYH9GOOdu8Xn5EnjuoQvjvcpuf744Xpzsd5efbrcnG_XvlJiyr0lrxR60Ip7XUOlpDYGGG2UZ5V3NTKOyKsb4ThURgJwL7Rxuqo0bxg_JWeHsrv5psfaL15cZ3cx9C7e29EF--fLEO7s7bi3TGtBK5kLvD0WiOP3GdNk-5A8dp0bcJyTVZxzQblZyDf_JBlljAm9eOIH0McxpYjNgx0KdgnGtvZnMHYJxoKwOZisevX7T35pjklk4PURcMm7rolu8CE9cIzl-XCztH9_4DCPfR8w2uQDDh7rENFPth7Df4yc_aX3XRhCbvkN7zG14xyHnKilNjEL9uuyQ8sKgcnhKC74Dwi1wAQ</recordid><startdate>20091101</startdate><enddate>20091101</enddate><creator>Bilguvar, Kaya, MD</creator><creator>DiLuna, Michael L., MD</creator><creator>Bizzarro, Matthew J., MD</creator><creator>Bayri, Yasar, MD</creator><creator>Schneider, Karen C., MPH</creator><creator>Lifton, Richard P., MD, PhD</creator><creator>Gunel, Murat, MD</creator><creator>Ment, Laura R., MD</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><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>7T7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20091101</creationdate><title>COL4A1 Mutation in Preterm Intraventricular Hemorrhage</title><author>Bilguvar, Kaya, MD ; DiLuna, Michael L., MD ; Bizzarro, Matthew J., MD ; Bayri, Yasar, MD ; Schneider, Karen C., MPH ; Lifton, Richard P., MD, PhD ; Gunel, Murat, MD ; Ment, Laura R., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c574t-346357ec0873c8d0576899021f7c25cade23ee35b4a30596003c489a85583f23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Biological and medical sciences</topic><topic>Cerebral Hemorrhage - diagnostic imaging</topic><topic>Cerebral Hemorrhage - genetics</topic><topic>Collagen Type IV - genetics</topic><topic>Diseases in Twins - diagnostic imaging</topic><topic>Diseases in Twins - genetics</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Gene Expression Regulation, Developmental</topic><topic>General aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Gestational Age</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Infant, Premature</topic><topic>Infant, Premature, Diseases - diagnostic imaging</topic><topic>Infant, Premature, Diseases - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Pediatrics</topic><topic>Pregnancy</topic><topic>Twins, Dizygotic</topic><topic>Ultrasonography, Doppler, Transcranial</topic><topic>Vascular diseases and vascular malformations of the nervous system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bilguvar, Kaya, MD</creatorcontrib><creatorcontrib>DiLuna, Michael L., MD</creatorcontrib><creatorcontrib>Bizzarro, Matthew J., MD</creatorcontrib><creatorcontrib>Bayri, Yasar, MD</creatorcontrib><creatorcontrib>Schneider, Karen C., MPH</creatorcontrib><creatorcontrib>Lifton, Richard P., MD, PhD</creatorcontrib><creatorcontrib>Gunel, Murat, MD</creatorcontrib><creatorcontrib>Ment, Laura R., MD</creatorcontrib><creatorcontrib>Pacifier and Breastfeeding Trial Group</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bilguvar, Kaya, MD</au><au>DiLuna, Michael L., MD</au><au>Bizzarro, Matthew J., MD</au><au>Bayri, Yasar, MD</au><au>Schneider, Karen C., MPH</au><au>Lifton, Richard P., MD, PhD</au><au>Gunel, Murat, MD</au><au>Ment, Laura R., MD</au><aucorp>Pacifier and Breastfeeding Trial Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>COL4A1 Mutation in Preterm Intraventricular Hemorrhage</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2009-11-01</date><risdate>2009</risdate><volume>155</volume><issue>5</issue><spage>743</spage><epage>745</epage><pages>743-745</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>Intraventricular hemorrhage is a common complication of preterm infants. 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| ispartof | The Journal of pediatrics, 2009-11, Vol.155 (5), p.743-745 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Biological and medical sciences Cerebral Hemorrhage - diagnostic imaging Cerebral Hemorrhage - genetics Collagen Type IV - genetics Diseases in Twins - diagnostic imaging Diseases in Twins - genetics Female Follow-Up Studies Gene Expression Regulation, Developmental General aspects Genetic Predisposition to Disease Gestational Age Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases - diagnostic imaging Infant, Premature, Diseases - genetics Male Medical sciences Mutation Neurology Pediatrics Pregnancy Twins, Dizygotic Ultrasonography, Doppler, Transcranial Vascular diseases and vascular malformations of the nervous system |
| title | COL4A1 Mutation in Preterm Intraventricular Hemorrhage |
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