Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
Identifieur interne : 000133 ( Main/Exploration ); précédent : 000132; suivant : 000134Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
Auteurs : Tamar Gur Hartman [Israël] ; Keren Yosovich [Israël] ; Hila Gur Michaeli [Israël] ; Lubov Blumkin [Israël] ; Liat Ben-Sira [Israël] ; Dorit Lev [Israël] ; Tally Lerman-Sagie [Israël] ; Ayelet Zerem [Israël]Source :
- Neurogenetics [ 1364-6753 ] ; 2020.
Abstract
Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-old boy with a milder phenotype of ISCA2 related disorder manifesting as: normal early development, acute infantile neurologic deterioration leading to stable spastic quadriparesis, optic atrophy and mild cognitive impairment. The first MRI demonstrated a diffuse demyelinating leukodystrophy. A sequential MRI revealed white matter rarefaction with well-delineated cysts. The patient harbors two novel bi-allelic variants (p.Ala2Asp and p.Pro138Arg) in ISCA2 inherited from heterozygous carrier parents. This report expands the clinical spectrum of ISCA2-related disorders to include a milder phenotype with a longer life span and better psychomotor function and cavitating leukodystrophy on MRI. We discuss the possible genetic explanation for the different presentation.
DOI: 10.1007/s10048-020-00611-8
PubMed: 32424628
Affiliations:
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of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.</title><author><name sortKey="Hartman, Tamar Gur" sort="Hartman, Tamar Gur" uniqKey="Hartman T" first="Tamar Gur" last="Hartman">Tamar Gur Hartman</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>School of Psychological Sciences, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>School of Psychological Sciences, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Yosovich, Keren" sort="Yosovich, Keren" uniqKey="Yosovich K" first="Keren" last="Yosovich">Keren Yosovich</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Institute of Medical Genetics, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation></author><author><name sortKey="Michaeli, Hila Gur" sort="Michaeli, Hila Gur" uniqKey="Michaeli H" first="Hila Gur" last="Michaeli">Hila Gur Michaeli</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Institute of Medical Genetics, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation></author><author><name sortKey="Blumkin, Lubov" sort="Blumkin, Lubov" uniqKey="Blumkin L" first="Lubov" last="Blumkin">Lubov Blumkin</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Ben Sira, Liat" sort="Ben Sira, Liat" uniqKey="Ben Sira L" first="Liat" last="Ben-Sira">Liat Ben-Sira</name><affiliation wicri:level="1"><nlm:affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Pediatric Radiology Unit, TASMC, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Radiology Unit, TASMC, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Institute of Medical Genetics, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Lerman Sagie, Tally" sort="Lerman Sagie, Tally" uniqKey="Lerman Sagie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Zerem, Ayelet" sort="Zerem, Ayelet" uniqKey="Zerem A" first="Ayelet" last="Zerem">Ayelet Zerem</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. ayeletze@tlvmc.gov.il.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Wolfson Medical Center, Holon</wicri:regionArea><wicri:noRegion>Holon</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. ayeletze@tlvmc.gov.il.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. ayeletze@tlvmc.gov.il.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author></analytic><series><title level="j">Neurogenetics</title><idno type="eISSN">1364-6753</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">Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-old boy with a milder phenotype of ISCA2 related disorder manifesting as: normal early development, acute infantile neurologic deterioration leading to stable spastic quadriparesis, optic atrophy and mild cognitive impairment. The first MRI demonstrated a diffuse demyelinating leukodystrophy. A sequential MRI revealed white matter rarefaction with well-delineated cysts. The patient harbors two novel bi-allelic variants (p.Ala2Asp and p.Pro138Arg) in ISCA2 inherited from heterozygous carrier parents. This report expands the clinical spectrum of ISCA2-related disorders to include a milder phenotype with a longer life span and better psychomotor function and cavitating leukodystrophy on MRI. We discuss the possible genetic explanation for the different presentation.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">32424628</PMID><DateRevised><Year>2020</Year><Month>11</Month><Day>10</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1364-6753</ISSN><JournalIssue CitedMedium="Internet"><Volume>21</Volume><Issue>4</Issue><PubDate><Year>2020</Year><Month>10</Month></PubDate></JournalIssue><Title>Neurogenetics</Title><ISOAbbreviation>Neurogenetics</ISOAbbreviation></Journal><ArticleTitle>Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.</ArticleTitle><Pagination><MedlinePgn>243-249</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10048-020-00611-8</ELocationID><Abstract><AbstractText>Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-old boy with a milder phenotype of ISCA2 related disorder manifesting as: normal early development, acute infantile neurologic deterioration leading to stable spastic quadriparesis, optic atrophy and mild cognitive impairment. The first MRI demonstrated a diffuse demyelinating leukodystrophy. A sequential MRI revealed white matter rarefaction with well-delineated cysts. The patient harbors two novel bi-allelic variants (p.Ala2Asp and p.Pro138Arg) in ISCA2 inherited from heterozygous carrier parents. This report expands the clinical spectrum of ISCA2-related disorders to include a milder phenotype with a longer life span and better psychomotor function and cavitating leukodystrophy on MRI. We discuss the possible genetic explanation for the different presentation.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hartman</LastName><ForeName>Tamar Gur</ForeName><Initials>TG</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Psychological Sciences, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yosovich</LastName><ForeName>Keren</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Michaeli</LastName><ForeName>Hila Gur</ForeName><Initials>HG</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blumkin</LastName><ForeName>Lubov</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ben-Sira</LastName><ForeName>Liat</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Pediatric Radiology Unit, TASMC, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lev</LastName><ForeName>Dorit</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lerman-Sagie</LastName><ForeName>Tally</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zerem</LastName><ForeName>Ayelet</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. ayeletze@tlvmc.gov.il.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. ayeletze@tlvmc.gov.il.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. ayeletze@tlvmc.gov.il.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>05</Month><Day>18</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurogenetics</MedlineTA><NlmUniqueID>9709714</NlmUniqueID><ISSNLinking>1364-6745</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">Leukodystrophy</Keyword><Keyword MajorTopicYN="Y">Multiple mitochondrial dysfunction syndrome</Keyword><Keyword MajorTopicYN="Y">Spastic quadriparesis</Keyword><Keyword MajorTopicYN="Y">White matter rarefaction</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2020</Year><Month>01</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2020</Year><Month>04</Month><Day>01</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>5</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>5</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>5</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">32424628</ArticleId><ArticleId IdType="doi">10.1007/s10048-020-00611-8</ArticleId><ArticleId IdType="pii">10.1007/s10048-020-00611-8</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Israël</li></country></list><tree><country name="Israël"><noRegion><name sortKey="Hartman, Tamar Gur" sort="Hartman, Tamar Gur" uniqKey="Hartman T" first="Tamar Gur" last="Hartman">Tamar Gur Hartman</name></noRegion><name sortKey="Ben Sira, Liat" sort="Ben Sira, Liat" uniqKey="Ben Sira L" first="Liat" last="Ben-Sira">Liat Ben-Sira</name><name sortKey="Ben Sira, Liat" sort="Ben Sira, Liat" uniqKey="Ben Sira L" first="Liat" last="Ben-Sira">Liat Ben-Sira</name><name sortKey="Blumkin, Lubov" sort="Blumkin, Lubov" uniqKey="Blumkin L" first="Lubov" last="Blumkin">Lubov Blumkin</name><name sortKey="Blumkin, Lubov" sort="Blumkin, Lubov" uniqKey="Blumkin L" first="Lubov" last="Blumkin">Lubov Blumkin</name><name sortKey="Hartman, Tamar Gur" sort="Hartman, Tamar Gur" uniqKey="Hartman T" first="Tamar Gur" last="Hartman">Tamar Gur Hartman</name><name sortKey="Lerman Sagie, Tally" sort="Lerman Sagie, Tally" uniqKey="Lerman Sagie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><name sortKey="Lerman Sagie, Tally" sort="Lerman Sagie, Tally" uniqKey="Lerman Sagie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name><name sortKey="Michaeli, Hila Gur" sort="Michaeli, Hila Gur" uniqKey="Michaeli H" first="Hila Gur" last="Michaeli">Hila Gur Michaeli</name><name sortKey="Yosovich, Keren" sort="Yosovich, Keren" uniqKey="Yosovich K" first="Keren" last="Yosovich">Keren Yosovich</name><name sortKey="Zerem, Ayelet" sort="Zerem, Ayelet" uniqKey="Zerem A" first="Ayelet" last="Zerem">Ayelet Zerem</name><name sortKey="Zerem, Ayelet" sort="Zerem, Ayelet" uniqKey="Zerem A" first="Ayelet" last="Zerem">Ayelet Zerem</name><name sortKey="Zerem, Ayelet" sort="Zerem, Ayelet" uniqKey="Zerem A" first="Ayelet" last="Zerem">Ayelet Zerem</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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