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

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 wh...

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Veröffentlicht in:Cold Spring Harbor molecular case studies 2015-10, Vol.1 (1), p.a000356-a000356
Hauptverfasser: Tanaka, Akemi J, Bai, Renkui, Cho, Megan T, Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L, Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K
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container_title Cold Spring Harbor molecular case studies
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creator Tanaka, Akemi J
Bai, Renkui
Cho, Megan T
Anyane-Yeboa, Kwame
Ahimaz, Priyanka
Wilson, Ashley L
Kendall, Fran
Hay, Beverly
Moss, Timothy
Nardini, Monica
Bauer, Mislen
Retterer, Kyle
Juusola, Jane
Chung, Wendy K
description 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.
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title De novo mutations in PURA are associated with hypotonia and developmental delay
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