Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T Nava, Elijah Kravets, Abigail Siegel, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D Gelb
Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the SHANK3 gene. While many clinical features of PMS are well-understood, there is currently limited literature on cardiovascular abnormalities in PMS. This report aims to evaluate the prevalence of aortic root dilation (ARD) among individuals with PMS and to understand if underlying genetic variation relates to risk for ARD. We present findings from 59 participants collected from a multisite observational study evaluating the phenotype and natural history of PMS...
September 11, 2024: American Journal of Medical Genetics. Part A