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dc.contributor.authorTanaka, Akemi J.
dc.contributor.authorBai, Renkui
dc.contributor.authorCho, Megan T.
dc.contributor.authorAnyane-Yeboa, Kwame
dc.contributor.authorAhimaz, Priyanka
dc.contributor.authorWilson, Ashley L.
dc.contributor.authorKendall, Fran
dc.contributor.authorHay, Beverly N.
dc.contributor.authorMoss, Timothy
dc.contributor.authorNardini, Monica
dc.contributor.authorBauer, Mislen
dc.contributor.authorRetterer, Kyle
dc.contributor.authorJuusola, Jane
dc.contributor.authorChung, Wendy K.
dc.date2022-08-11T08:10:14.000
dc.date.accessioned2022-08-23T17:00:19Z
dc.date.available2022-08-23T17:00:19Z
dc.date.issued2015-10-01
dc.date.submitted2016-11-15
dc.identifier.citationCold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. <a href="http://dx.doi.org/10.1101/mcs.a000356">Link to article on publisher's site</a>
dc.identifier.issn2373-2873 (Linking)
dc.identifier.doi10.1101/mcs.a000356
dc.identifier.pmid27148565
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43772
dc.description.abstractPURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children who were identified by clinical whole-exome sequencing (WES) to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures. The protein Puralpha (encoded by PURA) is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development. Mutations in PURA may alter normal brain development and impair neuronal function, leading to developmental delay and the seizures observed in patients with mutations in PURA.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=27148565&dopt=Abstract">Link to Article in PubMed</a>
dc.relation.urlhttp://dx.doi.org/10.1101/mcs.a000356
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectcentral hypotonia
dc.subjectgeneralized clonic seizures
dc.subjectgeneralized tonic seizures
dc.subjectsevere global developmental delay
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectGenetics
dc.subjectMedical Genetics
dc.subjectPediatrics
dc.titleDe novo mutations in PURA are associated with hypotonia and developmental delay
dc.typeArticle
dc.source.journaltitleCold Spring Harbor molecular case studies
dc.source.volume1
dc.source.issue1
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1082&amp;context=peds_pp&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/peds_pp/83
dc.identifier.contextkey9380721
refterms.dateFOA2022-08-23T17:00:19Z
html.description.abstract<p>PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children who were identified by clinical whole-exome sequencing (WES) to have novel de novo variants in PURA with a similar phenotype of hypotonia and developmental delay and frequently associated with seizures. The protein Puralpha (encoded by PURA) is involved in neuronal proliferation, dendrite maturation, and the transport of mRNA to translation sites during neuronal development. Mutations in PURA may alter normal brain development and impair neuronal function, leading to developmental delay and the seizures observed in patients with mutations in PURA.</p>
dc.identifier.submissionpathpeds_pp/83
dc.contributor.departmentDepartment of Pediatrics, Division of Genetics
dc.source.pagesa000356


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