De novo mutations in PURA are associated with hypotonia and developmental delay
AuthorsTanaka, Akemi J.
Cho, Megan T.
Wilson, Ashley L.
Hay, Beverly N.
Chung, Wendy K.
UMass Chan AffiliationsDepartment of Pediatrics, Division of Genetics
generalized clonic seizures
generalized tonic seizures
severe global developmental delay
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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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.
SourceCold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. Link to article on publisher's site
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/43772
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