Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.
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ABSTRACT:
SUBMITTER: Shimojima K
PROVIDER: S-EPMC5874397 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Infantile spasms related to a 5q31.2-q31.3 microdeletion including <i>PURA</i>.
Shimojima Keiko K Okamoto Nobuhiko N Ohmura Kayo K Nagase Hiroaki H Yamamoto Toshiyuki T
Human genome variation 20180329
Recently, haploinsufficiency of <i>PURA</i> has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included <i>PURA</i> was identified in a patient with infantile spasms. Approximately 50% of patients with <i>PURA</i>-related neurodevelopmental disorders exhibited epilepsy regardless of whether they harbor a 5q31.3 d ...[more]
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