Unknown

Dataset Information

0

De novo mutations in PURA are associated with hypotonia and developmental delay.

ABSTRACT: 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 Pur? (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.

SUBMITTER: Tanaka AJ 

PROVIDER: S-EPMC4850890 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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.  ...[more]

Similar Datasets

Unknown De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
| S-EPMC5701309 | biostudies-literature
Unknown A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
| S-EPMC5002929 | biostudies-literature
Unknown De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
| S-EPMC4375444 | biostudies-literature
Unknown De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
| S-EPMC4067559 | biostudies-literature
Unknown De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
| S-EPMC9179020 | biostudies-literature
Unknown Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
| S-EPMC4251168 | biostudies-literature
Unknown A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
| S-EPMC7057084 | biostudies-literature
Unknown Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
| S-EPMC6293633 | biostudies-literature
Unknown Variants in DOCK3 cause developmental delay and hypotonia.
| S-EPMC6777627 | biostudies-literature
Unknown Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
| S-EPMC4863562 | biostudies-literature