Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
Identifieur interne : 002254 ( PubMed/Checkpoint ); précédent : 002253; suivant : 002255Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
Auteurs : Hoon-Chul Kang [Corée du Sud] ; Su Jeong You ; Myung Jae Chey ; Jong Sam Baik ; Jong-Won Kim ; Chang-Seok KiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Asian Continental Ancestry Group (genetics), DNA Primers (genetics), DNA, Complementary (genetics), Exons (genetics), Gene Expression (genetics), Genomics (methods), Humans, Infant, Introns (genetics), Male, Point Mutation (genetics), Receptors, Glycine (genetics), Reflex, Startle (genetics), Sequence Analysis, DNA.
- MESH :
- chemical , genetics : DNA Primers, DNA, Complementary, Receptors, Glycine.
- genetics : Asian Continental Ancestry Group, Exons, Gene Expression, Introns, Point Mutation, Reflex, Startle.
- methods : Genomics.
- Humans, Infant, Male, Sequence Analysis, DNA.
Abstract
Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation.
DOI: 10.1002/mds.21909
PubMed: 18175347
Affiliations:
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MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18175347</PMID><DateCreated><Year>2008</Year><Month>04</Month><Day>03</Day></DateCreated><DateCompleted><Year>2008</Year><Month>07</Month><Day>22</Day></DateCompleted><DateRevised><Year>2014</Year><Month>11</Month><Day>20</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>4</Issue><PubDate><Year>2008</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation.</AbstractText><CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kang</LastName><ForeName>Hoon-Chul</ForeName><Initials>HC</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeong You</LastName><ForeName>Su</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Jae Chey</LastName><ForeName>Myung</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Sam Baik</LastName><ForeName>Jong</ForeName><Initials>J</Initials></Author><Author 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Glycine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013216">Reflex, Startle</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>1</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>7</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>1</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21909</ArticleId><ArticleId IdType="pubmed">18175347</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Corée du Sud</li></country><settlement><li>Séoul</li></settlement></list><tree><noCountry><name sortKey="Jae Chey, Myung" sort="Jae Chey, Myung" uniqKey="Jae Chey M" first="Myung" last="Jae Chey">Myung Jae Chey</name><name sortKey="Jeong You, Su" sort="Jeong You, Su" uniqKey="Jeong You S" first="Su" last="Jeong You">Su Jeong You</name><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name><name sortKey="Kim, Jong Won" sort="Kim, Jong Won" uniqKey="Kim J" first="Jong-Won" last="Kim">Jong-Won Kim</name><name sortKey="Sam Baik, Jong" sort="Sam Baik, Jong" uniqKey="Sam Baik J" first="Jong" last="Sam Baik">Jong Sam Baik</name></noCountry><country name="Corée du Sud"><noRegion><name sortKey="Kang, Hoon Chul" sort="Kang, Hoon Chul" uniqKey="Kang H" first="Hoon-Chul" last="Kang">Hoon-Chul 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