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.

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