A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Identifieur interne : 000182 ( Main/Exploration ); précédent : 000181; suivant : 000183A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Auteurs : Tu Çe Aksu Uzunhan [Turquie] ; Nafiye Emel Çakar [Turquie] ; Serhat Seyhan [Turquie] ; Kür Ad Aydin [Turquie]Source :
- Brain & development [ 1872-7131 ] ; 2020.
Abstract
BACKGROUND
Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death.
PATIENT DESCRIPTION
This report documents the case of a 27-month-old girl, who showed clinical signs and symptoms of spastic paraparesis with a relapsing-remitting course. The patient had a sister with a severe phenotype who died at the age of 16 months.
RESULTS
Magnetic resonance imaging revealed hyperintensity of the cerebral white matter that was more prominent in the frontal regions, with milder involvement in the posterior periventricular regions. There was also evidence of partial cystic degeneration and cavitation in the frontal regions. In addition, she had hyperglycinemia. Homozygous NM_001002755.4:c.565G>A (p.Gly189Arg) mutation was identified in the NFU1 gene; this had not previously been reported as homozygous.
CONCLUSION
Hyperglycinemia and cavitating leukodystrophy are suggestive of an NFU1 mutation diagnosis. An intrafamilial phenotypic variation has not been published in NFU1-associated disorders before. Presenting with spasticity as a rare phenotype, NFU1 mutations could be considered a genetic mimic of cerebral palsy.
DOI: 10.1016/j.braindev.2020.07.009
PubMed: 32747156
Affiliations:
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Electronic address: tugce.aksuuzunhan@saglik.gov.tr.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Pediatric Neurology, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Cakar, Nafiye Emel" sort="Cakar, Nafiye Emel" uniqKey="Cakar N" first="Nafiye Emel" last="Çakar">Nafiye Emel Çakar</name><affiliation wicri:level="1"><nlm:affiliation>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Paediatric Metabolism, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Paediatric Metabolism, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Seyhan, Serhat" sort="Seyhan, Serhat" uniqKey="Seyhan S" first="Serhat" last="Seyhan">Serhat Seyhan</name><affiliation wicri:level="1"><nlm:affiliation>Medipol University, Department of Medical Genetics, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Medipol University, Department of Medical Genetics, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Aydin, Kur Ad" sort="Aydin, Kur Ad" uniqKey="Aydin K" first="Kür Ad" last="Aydin">Kür Ad Aydin</name><affiliation wicri:level="1"><nlm:affiliation>Medipol University, Department of Pediatric Neurology, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Medipol University, Department of Pediatric Neurology, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2020">2020</date><idno type="RBID">pubmed:32747156</idno><idno type="pmid">32747156</idno><idno type="doi">10.1016/j.braindev.2020.07.009</idno><idno type="wicri:Area/Main/Corpus">000053</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000053</idno><idno type="wicri:Area/Main/Curation">000053</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000053</idno><idno type="wicri:Area/Main/Exploration">000053</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.</title><author><name sortKey="Uzunhan, Tu Ce Aksu" sort="Uzunhan, Tu Ce Aksu" uniqKey="Uzunhan T" first="Tu Çe Aksu" last="Uzunhan">Tu Çe Aksu Uzunhan</name><affiliation wicri:level="1"><nlm:affiliation>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Pediatric Neurology, Istanbul, Turkey. Electronic address: tugce.aksuuzunhan@saglik.gov.tr.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Pediatric Neurology, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Cakar, Nafiye Emel" sort="Cakar, Nafiye Emel" uniqKey="Cakar N" first="Nafiye Emel" last="Çakar">Nafiye Emel Çakar</name><affiliation wicri:level="1"><nlm:affiliation>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Paediatric Metabolism, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Paediatric Metabolism, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Seyhan, Serhat" sort="Seyhan, Serhat" uniqKey="Seyhan S" first="Serhat" last="Seyhan">Serhat Seyhan</name><affiliation wicri:level="1"><nlm:affiliation>Medipol University, Department of Medical Genetics, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Medipol University, Department of Medical Genetics, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Aydin, Kur Ad" sort="Aydin, Kur Ad" uniqKey="Aydin K" first="Kür Ad" last="Aydin">Kür Ad Aydin</name><affiliation wicri:level="1"><nlm:affiliation>Medipol University, Department of Pediatric Neurology, Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Medipol University, Department of Pediatric Neurology, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author></analytic><series><title level="j">Brain & development</title><idno type="eISSN">1872-7131</idno><imprint><date when="2020" type="published">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><b>BACKGROUND</b></p><p>Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death.</p></div><div type="abstract" xml:lang="en"><p><b>PATIENT DESCRIPTION</b></p><p>This report documents the case of a 27-month-old girl, who showed clinical signs and symptoms of spastic paraparesis with a relapsing-remitting course. The patient had a sister with a severe phenotype who died at the age of 16 months.</p></div><div type="abstract" xml:lang="en"><p><b>RESULTS</b></p><p>Magnetic resonance imaging revealed hyperintensity of the cerebral white matter that was more prominent in the frontal regions, with milder involvement in the posterior periventricular regions. There was also evidence of partial cystic degeneration and cavitation in the frontal regions. In addition, she had hyperglycinemia. Homozygous NM_001002755.4:c.565G>A (p.Gly189Arg) mutation was identified in the NFU1 gene; this had not previously been reported as homozygous.</p></div><div type="abstract" xml:lang="en"><p><b>CONCLUSION</b></p><p>Hyperglycinemia and cavitating leukodystrophy are suggestive of an NFU1 mutation diagnosis. An intrafamilial phenotypic variation has not been published in NFU1-associated disorders before. Presenting with spasticity as a rare phenotype, NFU1 mutations could be considered a genetic mimic of cerebral palsy.</p></div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">32747156</PMID><DateRevised><Year>2020</Year><Month>09</Month><Day>15</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1872-7131</ISSN><JournalIssue CitedMedium="Internet"><Volume>42</Volume><Issue>10</Issue><PubDate><Year>2020</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Brain & development</Title><ISOAbbreviation>Brain Dev</ISOAbbreviation></Journal><ArticleTitle>A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.</ArticleTitle><Pagination><MedlinePgn>756-761</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0387-7604(20)30191-1</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.braindev.2020.07.009</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death.</AbstractText><AbstractText Label="PATIENT DESCRIPTION" NlmCategory="UNASSIGNED">This report documents the case of a 27-month-old girl, who showed clinical signs and symptoms of spastic paraparesis with a relapsing-remitting course. The patient had a sister with a severe phenotype who died at the age of 16 months.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Magnetic resonance imaging revealed hyperintensity of the cerebral white matter that was more prominent in the frontal regions, with milder involvement in the posterior periventricular regions. There was also evidence of partial cystic degeneration and cavitation in the frontal regions. In addition, she had hyperglycinemia. Homozygous NM_001002755.4:c.565G>A (p.Gly189Arg) mutation was identified in the NFU1 gene; this had not previously been reported as homozygous.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Hyperglycinemia and cavitating leukodystrophy are suggestive of an NFU1 mutation diagnosis. An intrafamilial phenotypic variation has not been published in NFU1-associated disorders before. Presenting with spasticity as a rare phenotype, NFU1 mutations could be considered a genetic mimic of cerebral palsy.</AbstractText><CopyrightInformation>Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Uzunhan</LastName><ForeName>Tuğçe Aksu</ForeName><Initials>TA</Initials><AffiliationInfo><Affiliation>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Pediatric Neurology, Istanbul, Turkey. Electronic address: tugce.aksuuzunhan@saglik.gov.tr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Çakar</LastName><ForeName>Nafiye Emel</ForeName><Initials>NE</Initials><AffiliationInfo><Affiliation>University of Health Sciences, Okmeydanı Training and Research Hospital, Division of Paediatric Metabolism, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Seyhan</LastName><ForeName>Serhat</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Medipol University, Department of Medical Genetics, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aydin</LastName><ForeName>Kürşad</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Medipol University, Department of Pediatric Neurology, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>08</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Brain Dev</MedlineTA><NlmUniqueID>7909235</NlmUniqueID><ISSNLinking>0387-7604</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Cerebral palsy</Keyword><Keyword MajorTopicYN="N">Iron-sulfur cluster</Keyword><Keyword MajorTopicYN="N">Leukoencephalopathy</Keyword><Keyword MajorTopicYN="N">Mitochondrial dysfunctions syndromes</Keyword><Keyword MajorTopicYN="N">NFU1</Keyword></KeywordList><CoiStatement>Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2020</Year><Month>02</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2020</Year><Month>07</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2020</Year><Month>07</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>8</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>8</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>8</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">32747156</ArticleId><ArticleId IdType="pii">S0387-7604(20)30191-1</ArticleId><ArticleId IdType="doi">10.1016/j.braindev.2020.07.009</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Turquie</li></country></list><tree><country name="Turquie"><noRegion><name sortKey="Uzunhan, Tu Ce Aksu" sort="Uzunhan, Tu Ce Aksu" uniqKey="Uzunhan T" first="Tu Çe Aksu" last="Uzunhan">Tu Çe Aksu Uzunhan</name></noRegion><name sortKey="Aydin, Kur Ad" sort="Aydin, Kur Ad" uniqKey="Aydin K" first="Kür Ad" last="Aydin">Kür Ad Aydin</name><name sortKey="Cakar, Nafiye Emel" sort="Cakar, Nafiye Emel" uniqKey="Cakar N" first="Nafiye Emel" last="Çakar">Nafiye Emel Çakar</name><name sortKey="Seyhan, Serhat" sort="Seyhan, Serhat" uniqKey="Seyhan S" first="Serhat" last="Seyhan">Serhat Seyhan</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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