Original ArticlesHomozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndromeAerden, Mioa; Vallaeys, Loreb; Holvoet, Maureena; De Waele, Liesbethc,,d; Van Den Bogaert, Krisa; Devriendt, KoenaAuthor Information aCenter for Human Genetics, Department for Human Genetics, University Hospitals Leuven – Katholieke Universiteit Leuven, Leuven bDepartment of Paediatrics, AZ Groeninge, Kortrijk cDepartment of Paediatrics, University Hospitals Leuven dDepartment of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium Received 4 December 2020 Accepted 13 January 2021 Correspondence to Mio Aerden, BM, Center for Human Genetics, UZ Leuven - KU Leuven, Herestraat 49, 3001 Leuven, Belgium, Tel: +32479/32 24 23; e-mail: [email protected] Clinical Dysmorphology: July 2021 - Volume 30 - Issue 3 - p 121-124 doi: 10.1097/MCD.0000000000000368 Buy Metrics Abstract Homozygous or compound heterozygous mutations in STRADA cause polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE), with additional features of distinctive facial traits and severe developmental delay or intellectual disability. This syndrome was first defined in 16 Old Order Mennonite patients, carrying a homozygous STRADA deletion of exon 9–13. Five additional PMSE patients have been reported since, each of them with loss-of-function variants. We report a female patient with the typical clinical features of PMSE, homozygous for a novel STRADA missense mutation c.792T>A (p.Ser264Arg) in exon 10. This finding contributes to the further delineation of the phenotype of PMSE. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.