Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome

Clin Dysmorphol. 2021 Jul 1;30(3):121-124. doi: 10.1097/MCD.0000000000000368.

Mio Aerden ¹, Lore Vallaeys ², Maureen Holvoet ¹, Liesbeth De Waele ³ ⁴, Kris Van Den Bogaert ¹, Koen Devriendt ¹

Affiliations

1 Center for Human Genetics, Department for Human Genetics, University Hospitals Leuven - Katholieke Universiteit Leuven, Leuven.
2 Department of Paediatrics, AZ Groeninge, Kortrijk.
3 Department of Paediatrics, University Hospitals Leuven.
4 Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.

PMID: 33605605 DOI: 10.1097/MCD.0000000000000368

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.

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