Journal article
PURA syndrome: Clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, RPW Rouhl, SJC Stevens, APA Stegmann, J Schieving, R Pfundt, K Van Dijk, E Smeets, CTRM Stumpel, LA Bok, JM Cobben, M Engelen, S Mansour, M Whiteford, KE Chandler Show all
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2018
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..
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Awarded by National Institute for Health Research
Funding Acknowledgements
DH and DB are supported by a grant from the Newlife Foundation, UK. RJL is supported by a Melbourne Children's Clinician Scientist Fellowship. DN is supported by the Deutsche Forschungsgemeinschaft NI 1110/4-1. KS and PL (JN) are supported by MH CR AZV 15-33041A. The work for patient 29 was partially funded by NMRC/CG/006/2013 from the National Medical Research Council, Ministry of Health, Republic of Singapore. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. None of the funders were involved in study design, data collection, analysis and interpretation, writing of the report or in the decision to submit the paper for publication.