Paediatrics Publications
Document Type
Article
Publication Date
2-2018
Journal
Journal of Medical Genetics
Volume
55
Issue
2
First Page
104
Last Page
113
URL with Digital Object Identifier
https;//doi.org/10.1136/jmedgenet-2017-104946
Abstract
BACKGROUND: De novo mutations in
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
RESULTS: We report mutations in
CONCLUSION: 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.
