Dataset Information

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 Purα (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

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

Tanaka Akemi J AJ Bai Renkui R Cho Megan T MT Anyane-Yeboa Kwame K Ahimaz Priyanka P Wilson Ashley L AL Kendall Fran F Hay Beverly B Moss Timothy T Nardini Monica M Bauer Mislen M Retterer Kyle K Juusola Jane J Chung Wendy K WK

Cold Spring Harbor molecular case studies 20151001 1

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]

PMID: 27148565

Dataset Information

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

Publications

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

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