Journal Article


Diana Baralle
David Hunt
Dierk Niessing
Christoffer Nellaker
Richard J Leventer
Paulo Selber
The Ddd Study
Victoria Mok Siu
Virginia E Clowes
Mel Anderson
and 43 others



literature review clinical study crystal structures genotype syndrome individuals phenotype computational analysis

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. (2017)

Abstract De novo mutations in To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. 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 We report mutations in We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

Diana Baralle, David Hunt, Dierk Niessing, Christoffer Nellaker, Richard J Leventer, Paulo Selber, The Ddd Study, Victoria Mok Siu, Virginia E Clowes, Mel Anderson and 43 others

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