A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease
Abstract A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16 months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 muta...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2016-06, Vol.38 (6), p.581-584 |
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| container_title | Brain & development (Tokyo. 1979) |
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| creator | Omata, Taku Nagai, Jun-ichi Shimbo, Hiroko Koizume, Shiro Miyagi, Yohei Kurosawa, Kenji Yamashita, Sumimasa Osaka, Hitoshi Inoue, Ken |
| description | Abstract A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16 months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4:c.454-9T>G. Expression analysis using the patient’s leukocytes demonstrated an additional abnormal transcript including the last 118 bp of intron 3. In silico prediction analysis suggested the reduction of wild-type acceptor activity, which presumably evokes the cryptic splicing variant. Putative cryptic transcript results in premature termination, which may explain the mild clinical phenotype observed in this patient. |
| doi_str_mv | 10.1016/j.braindev.2015.12.002 |
| format | Article |
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Clinically, mild developmental delay with acquisition of assisted walking at 16 months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4:c.454-9T>G. Expression analysis using the patient’s leukocytes demonstrated an additional abnormal transcript including the last 118 bp of intron 3. In silico prediction analysis suggested the reduction of wild-type acceptor activity, which presumably evokes the cryptic splicing variant. Putative cryptic transcript results in premature termination, which may explain the mild clinical phenotype observed in this patient.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2015.12.002</identifier><identifier>PMID: 26725305</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Brain - diagnostic imaging ; Child ; DM20 ; DNA Mutational Analysis ; Humans ; Hypomyelinating leukodystrophy ; Intronic mutation ; Introns ; Leukocytes - metabolism ; Magnetic Resonance Imaging ; Male ; Mutation ; Myelin Proteolipid Protein - genetics ; Myelin Proteolipid Protein - metabolism ; Neurology ; Pelizaeus-Merzbacher Disease - diagnostic imaging ; Pelizaeus-Merzbacher Disease - genetics ; Pelizaeus-Merzbacher Disease - metabolism ; Phenotype ; PLP1 ; Reverse Transcriptase Polymerase Chain Reaction ; Severity of Illness Index</subject><ispartof>Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.581-584</ispartof><rights>The Japanese Society of Child Neurology</rights><rights>2015 The Japanese Society of Child Neurology</rights><rights>Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-c48692c94c9ed9ab3afdf75b8d53067f588be1bc8198a7f17eee0bc6740337c63</citedby><cites>FETCH-LOGICAL-c546t-c48692c94c9ed9ab3afdf75b8d53067f588be1bc8198a7f17eee0bc6740337c63</cites><orcidid>0000-0002-1320-1165</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0387760415002569$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26725305$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Omata, Taku</creatorcontrib><creatorcontrib>Nagai, Jun-ichi</creatorcontrib><creatorcontrib>Shimbo, Hiroko</creatorcontrib><creatorcontrib>Koizume, Shiro</creatorcontrib><creatorcontrib>Miyagi, Yohei</creatorcontrib><creatorcontrib>Kurosawa, Kenji</creatorcontrib><creatorcontrib>Yamashita, Sumimasa</creatorcontrib><creatorcontrib>Osaka, Hitoshi</creatorcontrib><creatorcontrib>Inoue, Ken</creatorcontrib><title>A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Abstract A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16 months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4:c.454-9T>G. Expression analysis using the patient’s leukocytes demonstrated an additional abnormal transcript including the last 118 bp of intron 3. In silico prediction analysis suggested the reduction of wild-type acceptor activity, which presumably evokes the cryptic splicing variant. Putative cryptic transcript results in premature termination, which may explain the mild clinical phenotype observed in this patient.</description><subject>Brain - diagnostic imaging</subject><subject>Child</subject><subject>DM20</subject><subject>DNA Mutational Analysis</subject><subject>Humans</subject><subject>Hypomyelinating leukodystrophy</subject><subject>Intronic mutation</subject><subject>Introns</subject><subject>Leukocytes - metabolism</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Mutation</subject><subject>Myelin Proteolipid Protein - genetics</subject><subject>Myelin Proteolipid Protein - metabolism</subject><subject>Neurology</subject><subject>Pelizaeus-Merzbacher Disease - diagnostic imaging</subject><subject>Pelizaeus-Merzbacher Disease - genetics</subject><subject>Pelizaeus-Merzbacher Disease - metabolism</subject><subject>Phenotype</subject><subject>PLP1</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>Severity of Illness Index</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhi1ERZe2f6HKkUuCx46_Loiq4qPSolYqnC3HnoCXbLLYSaX21-Ptthy4gCzZPjzvzOgZQs6BNkBBvt00XXJxDHjXMAqiAdZQyl6QFWjFagUcXpIV5VrVStL2mLzOeUMpBQb0FTlmUjHBqViR9UWVd0P0cfxebZfZzXEaq6mvdmmacRriLobDP44VVOW6wSE-OFxy_QXTQ-f8D0xViBldxlNy1Lsh49nTe0K-ffzw9fJzvb7-dHV5sa69aOVc-1ZLw7xpvcFgXMddH3olOh3KTFL1QusOofMajHaqB4WItPNStZRz5SU_IW8OdctkvxbMs93G7HEY3IjTki0oQw0Xhqr_QHWrHk9B5QH1aco5YW93KW5durdA7V663dhn6XYv3QKzRXoJnj_1WLothj-xZ8sFeH8AsEi5i5hs9hFHjyEm9LMNU_x3j3d_lfBDHKN3w0-8x7yZljQW5RZsLgF7u1_9fvMgSlpIw38D56mq8Q</recordid><startdate>20160601</startdate><enddate>20160601</enddate><creator>Omata, Taku</creator><creator>Nagai, Jun-ichi</creator><creator>Shimbo, Hiroko</creator><creator>Koizume, Shiro</creator><creator>Miyagi, Yohei</creator><creator>Kurosawa, Kenji</creator><creator>Yamashita, Sumimasa</creator><creator>Osaka, Hitoshi</creator><creator>Inoue, Ken</creator><general>Elsevier 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>7X8</scope><scope>7TK</scope><orcidid>https://orcid.org/0000-0002-1320-1165</orcidid></search><sort><creationdate>20160601</creationdate><title>A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease</title><author>Omata, Taku ; Nagai, Jun-ichi ; Shimbo, Hiroko ; Koizume, Shiro ; Miyagi, Yohei ; Kurosawa, Kenji ; Yamashita, Sumimasa ; Osaka, Hitoshi ; Inoue, Ken</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c546t-c48692c94c9ed9ab3afdf75b8d53067f588be1bc8198a7f17eee0bc6740337c63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Brain - diagnostic imaging</topic><topic>Child</topic><topic>DM20</topic><topic>DNA Mutational Analysis</topic><topic>Humans</topic><topic>Hypomyelinating leukodystrophy</topic><topic>Intronic mutation</topic><topic>Introns</topic><topic>Leukocytes - metabolism</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Mutation</topic><topic>Myelin Proteolipid Protein - genetics</topic><topic>Myelin Proteolipid Protein - metabolism</topic><topic>Neurology</topic><topic>Pelizaeus-Merzbacher Disease - diagnostic imaging</topic><topic>Pelizaeus-Merzbacher Disease - genetics</topic><topic>Pelizaeus-Merzbacher Disease - metabolism</topic><topic>Phenotype</topic><topic>PLP1</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>Severity of Illness Index</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Omata, Taku</creatorcontrib><creatorcontrib>Nagai, Jun-ichi</creatorcontrib><creatorcontrib>Shimbo, Hiroko</creatorcontrib><creatorcontrib>Koizume, Shiro</creatorcontrib><creatorcontrib>Miyagi, Yohei</creatorcontrib><creatorcontrib>Kurosawa, Kenji</creatorcontrib><creatorcontrib>Yamashita, Sumimasa</creatorcontrib><creatorcontrib>Osaka, Hitoshi</creatorcontrib><creatorcontrib>Inoue, Ken</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Omata, Taku</au><au>Nagai, Jun-ichi</au><au>Shimbo, Hiroko</au><au>Koizume, Shiro</au><au>Miyagi, Yohei</au><au>Kurosawa, Kenji</au><au>Yamashita, Sumimasa</au><au>Osaka, Hitoshi</au><au>Inoue, Ken</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2016-06-01</date><risdate>2016</risdate><volume>38</volume><issue>6</issue><spage>581</spage><epage>584</epage><pages>581-584</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Abstract A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16 months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4:c.454-9T>G. Expression analysis using the patient’s leukocytes demonstrated an additional abnormal transcript including the last 118 bp of intron 3. In silico prediction analysis suggested the reduction of wild-type acceptor activity, which presumably evokes the cryptic splicing variant. Putative cryptic transcript results in premature termination, which may explain the mild clinical phenotype observed in this patient.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>26725305</pmid><doi>10.1016/j.braindev.2015.12.002</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-1320-1165</orcidid></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Brain - diagnostic imaging Child DM20 DNA Mutational Analysis Humans Hypomyelinating leukodystrophy Intronic mutation Introns Leukocytes - metabolism Magnetic Resonance Imaging Male Mutation Myelin Proteolipid Protein - genetics Myelin Proteolipid Protein - metabolism Neurology Pelizaeus-Merzbacher Disease - diagnostic imaging Pelizaeus-Merzbacher Disease - genetics Pelizaeus-Merzbacher Disease - metabolism Phenotype PLP1 Reverse Transcriptase Polymerase Chain Reaction Severity of Illness Index |
| title | A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease |
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