PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

ABSTRACT:

Background

De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.

Objectives

To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations.

Methods

Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived

SUBMITTER: Reijnders MRF 

PROVIDER: S-EPMC5800346 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature