Journal article

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome

Daisy A Shepherd, Niels Vos, Susan M Reid, David E Godler, Angela Guzys, Margarita Moreno-Betancur, David J Amor

Genes | MDPI | Published : 2020


Prader-Willi syndrome (PWS) is a rare disorder caused by the loss of expression of genes on the paternal copy of chromosome 15q11-13. The main molecular subtypes of PWS are the deletion of 15q11-13 and non-deletion, and differences in neurobehavioral phenotype are recognized between the subtypes. This study aimed to investigate growth trajectories in PWS and associations between PWS subtype (deletion vs. non-deletion) and height, weight and body mass index (BMI). Growth data were available for 125 individuals with PWS (63 males, 62 females), of which 72 (57.6%) had the deletion subtype. There was a median of 28 observations per individual (range 2-85), producing 3565 data points distributed ..

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Awarded by Medical Research Future Fund

Awarded by Australian Research Council Discovery Early Career Award - Australian Government

Funding Acknowledgements

This study was supported by the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by the Next Generation Clinical Researchers Program -Career Development Fellowship, funded by the Medical Research Future Fund (MRF1141334 to D.E.G.). Margarita Moreno-Betancur is the recipient of an Australian Research Council Discovery Early Career Award (project number DE190101326) funded by the Australian Government. The Victorian Prader-Willi Syndrome Register is supported by the Do-Bees and Trailblazers Auxiliaries of the Royal Children's Hospital Foundation.