Journal article
Expanding the neurodevelopmental phenotype of PURA syndrome
BH Lee, MRF Reijnders, O Abubakare, E Tuttle, B Lape, KQ Minks, C Stodgell, L Bennetto, J Kwon, CT Fong, KW Gripp, ED Marsh, WE Smith, AM Huq, SA Coury, WH Tan, O Solis, RI Mehta, RJ Leventer, D Baralle Show all
American Journal of Medical Genetics Part A | WILEY | Published : 2018
DOI: 10.1002/ajmg.a.38521
Abstract
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life. Feeding difficulties were frequently reported, with gastrostomy tube placement required in 28%. Epilepsy was present in 50% of the su..
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Awarded by National Institutes of Health
Funding Acknowledgements
National Institute for Deafness and Communications Disorders, Grant number: R01DC009439; National Institute of Neurological Disorders and Stroke, Grant numbers: K08NS078054, K08NS089830