Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutation (m.8993 T>G) in the gene encoding subunit 6 of the mitochondrial ATP synthase ( MTATP6...
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| Veröffentlicht in: | European journal of pediatrics 2015-02, Vol.174 (2), p.267-270 |
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| creator | De Praeter, Claudine Vanlander, Arnaud Vanhaesebrouck, Piet Smet, Joél Seneca, Sara De Sutter, Petra Van Coster, Rudy |
| description | The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutation (m.8993 T>G) in the gene encoding subunit 6 of the mitochondrial ATP synthase (
MTATP6
). Although the lactate concentration in serum normalized and the proband recovered after a short period at the neonatal intensive care unit, his ultimate motor and cognitive development was poor. Brain MRI at the age of 6 months showed bilaterally signal abnormalities in the caudate nucleus, putamen, thalamus, and mesencephalon. He died at the age of 9 months. The difficulty in genetic counseling in families with a maternal mitochondrial mutation disorder is emphasized.
Conclusion
: Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions. |
| doi_str_mv | 10.1007/s00431-014-2370-y |
| format | Article |
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MTATP6
). Although the lactate concentration in serum normalized and the proband recovered after a short period at the neonatal intensive care unit, his ultimate motor and cognitive development was poor. Brain MRI at the age of 6 months showed bilaterally signal abnormalities in the caudate nucleus, putamen, thalamus, and mesencephalon. He died at the age of 9 months. The difficulty in genetic counseling in families with a maternal mitochondrial mutation disorder is emphasized.
Conclusion
: Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/s00431-014-2370-y</identifier><identifier>PMID: 25009317</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Acidosis ; Acidosis, Lactic - genetics ; Age ; Ataxia ; Breastfeeding & lactation ; Cytotoxicity ; Decision making ; DNA, Mitochondrial - genetics ; Edema ; Family planning ; Fatal Outcome ; Genetic Counseling ; Hospitals ; Humans ; Infant, Newborn ; Intensive care ; Leigh Disease - genetics ; Leukocytes ; Magnetic Resonance Imaging ; Male ; Medicine ; Medicine & Public Health ; Metabolism ; Mitochondria - genetics ; Mitochondrial DNA ; Mitochondrial Proton-Translocating ATPases - genetics ; Musculoskeletal system ; Mutation ; Pediatrics ; Point Mutation - genetics ; Short Communication</subject><ispartof>European journal of pediatrics, 2015-02, Vol.174 (2), p.267-270</ispartof><rights>Springer-Verlag Berlin Heidelberg 2014</rights><rights>Springer-Verlag Berlin Heidelberg 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c442t-291f7cd42f219fc90edcca99da53aadf333548af4eb169af63094c3768cc7b783</citedby><cites>FETCH-LOGICAL-c442t-291f7cd42f219fc90edcca99da53aadf333548af4eb169af63094c3768cc7b783</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00431-014-2370-y$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00431-014-2370-y$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25009317$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>De Praeter, Claudine</creatorcontrib><creatorcontrib>Vanlander, Arnaud</creatorcontrib><creatorcontrib>Vanhaesebrouck, Piet</creatorcontrib><creatorcontrib>Smet, Joél</creatorcontrib><creatorcontrib>Seneca, Sara</creatorcontrib><creatorcontrib>De Sutter, Petra</creatorcontrib><creatorcontrib>Van Coster, Rudy</creatorcontrib><title>Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><addtitle>Eur J Pediatr</addtitle><description>The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutation (m.8993 T>G) in the gene encoding subunit 6 of the mitochondrial ATP synthase (
MTATP6
). Although the lactate concentration in serum normalized and the proband recovered after a short period at the neonatal intensive care unit, his ultimate motor and cognitive development was poor. Brain MRI at the age of 6 months showed bilaterally signal abnormalities in the caudate nucleus, putamen, thalamus, and mesencephalon. He died at the age of 9 months. The difficulty in genetic counseling in families with a maternal mitochondrial mutation disorder is emphasized.
Conclusion
: Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions.</description><subject>Acidosis</subject><subject>Acidosis, Lactic - genetics</subject><subject>Age</subject><subject>Ataxia</subject><subject>Breastfeeding & lactation</subject><subject>Cytotoxicity</subject><subject>Decision making</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Edema</subject><subject>Family planning</subject><subject>Fatal Outcome</subject><subject>Genetic Counseling</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Intensive care</subject><subject>Leigh Disease - genetics</subject><subject>Leukocytes</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolism</subject><subject>Mitochondria - genetics</subject><subject>Mitochondrial DNA</subject><subject>Mitochondrial Proton-Translocating ATPases - genetics</subject><subject>Musculoskeletal system</subject><subject>Mutation</subject><subject>Pediatrics</subject><subject>Point Mutation - genetics</subject><subject>Short Communication</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kU1OHDEUhK0IFAaSA2QTWWLDpsPzT_84C6QIEYKExAbWlsc_M0bd9sTuFpkzcAnOwsniYUhASKzeor6qV1Ih9IXANwLQHmcAzkgFhFeUtVCtP6AZ4YxWBNpmB82AcagaIsQe2s_5FopHkO4j2qM1gGCknaH7sz9jsoPt13jpF0s8TKMafQy4j8rg6PC4tHjwY9TLGEzyqsedEOzx4frk_AX2ASsc7N08pvAd-2HVe_2kZOxiwqsUFyFmn7EKBjs1-PJu1asQfFhgY7XPG_YT2nWqz_bz8z1ANz_Prk9_VZdX5xenPy4rzTkdKyqIa7Xh1FEinBZgjdZKCKNqppRxjLGad8pxOyeNUK5hILhmbdNp3c7bjh2go21u6fV7snmUg8_a9qWQjVOWpKkpE9DVG_TwDXobpxRKu0Lxpq5ZB6RQZEvpFHNO1slV8oNKa0lAbpaS26VkWUpulpLr4vn6nDzNB2v-O_5NUwC6BXKRwsKmV6_fTf0Ls5OhNg</recordid><startdate>20150201</startdate><enddate>20150201</enddate><creator>De Praeter, Claudine</creator><creator>Vanlander, Arnaud</creator><creator>Vanhaesebrouck, Piet</creator><creator>Smet, Joél</creator><creator>Seneca, Sara</creator><creator>De Sutter, Petra</creator><creator>Van Coster, Rudy</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</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>7RV</scope><scope>7TK</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>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>20150201</creationdate><title>Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions</title><author>De Praeter, Claudine ; Vanlander, Arnaud ; Vanhaesebrouck, Piet ; Smet, Joél ; Seneca, Sara ; De Sutter, Petra ; Van Coster, Rudy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c442t-291f7cd42f219fc90edcca99da53aadf333548af4eb169af63094c3768cc7b783</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Acidosis</topic><topic>Acidosis, Lactic - genetics</topic><topic>Age</topic><topic>Ataxia</topic><topic>Breastfeeding & lactation</topic><topic>Cytotoxicity</topic><topic>Decision making</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Edema</topic><topic>Family planning</topic><topic>Fatal Outcome</topic><topic>Genetic Counseling</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Intensive care</topic><topic>Leigh Disease - genetics</topic><topic>Leukocytes</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolism</topic><topic>Mitochondria - genetics</topic><topic>Mitochondrial DNA</topic><topic>Mitochondrial Proton-Translocating ATPases - genetics</topic><topic>Musculoskeletal system</topic><topic>Mutation</topic><topic>Pediatrics</topic><topic>Point Mutation - genetics</topic><topic>Short Communication</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>De Praeter, Claudine</creatorcontrib><creatorcontrib>Vanlander, Arnaud</creatorcontrib><creatorcontrib>Vanhaesebrouck, Piet</creatorcontrib><creatorcontrib>Smet, Joél</creatorcontrib><creatorcontrib>Seneca, Sara</creatorcontrib><creatorcontrib>De Sutter, Petra</creatorcontrib><creatorcontrib>Van Coster, Rudy</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>Proquest Nursing & Allied Health Source</collection><collection>Neurosciences Abstracts</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 Essentials</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>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Praeter, Claudine</au><au>Vanlander, Arnaud</au><au>Vanhaesebrouck, Piet</au><au>Smet, Joél</au><au>Seneca, Sara</au><au>De Sutter, Petra</au><au>Van Coster, Rudy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions</atitle><jtitle>European journal of pediatrics</jtitle><stitle>Eur J Pediatr</stitle><addtitle>Eur J Pediatr</addtitle><date>2015-02-01</date><risdate>2015</risdate><volume>174</volume><issue>2</issue><spage>267</spage><epage>270</epage><pages>267-270</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><abstract>The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutation (m.8993 T>G) in the gene encoding subunit 6 of the mitochondrial ATP synthase (
MTATP6
). Although the lactate concentration in serum normalized and the proband recovered after a short period at the neonatal intensive care unit, his ultimate motor and cognitive development was poor. Brain MRI at the age of 6 months showed bilaterally signal abnormalities in the caudate nucleus, putamen, thalamus, and mesencephalon. He died at the age of 9 months. The difficulty in genetic counseling in families with a maternal mitochondrial mutation disorder is emphasized.
Conclusion
: Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>25009317</pmid><doi>10.1007/s00431-014-2370-y</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0340-6199 |
| ispartof | European journal of pediatrics, 2015-02, Vol.174 (2), p.267-270 |
| issn | 0340-6199 1432-1076 |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Acidosis Acidosis, Lactic - genetics Age Ataxia Breastfeeding & lactation Cytotoxicity Decision making DNA, Mitochondrial - genetics Edema Family planning Fatal Outcome Genetic Counseling Hospitals Humans Infant, Newborn Intensive care Leigh Disease - genetics Leukocytes Magnetic Resonance Imaging Male Medicine Medicine & Public Health Metabolism Mitochondria - genetics Mitochondrial DNA Mitochondrial Proton-Translocating ATPases - genetics Musculoskeletal system Mutation Pediatrics Point Mutation - genetics Short Communication |
| title | Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions |
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