Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, cutis gyrate, epilepsy, facial dysmorphism, macrocephaly, megalencephaly, polyhydramnios, psychomotor retardation, STRADA, EXOME, Adaptor Proteins, Vesicular Transport, Child, Developmental Disabilities, Epilepsy, Generalized, Epileptic Syndromes, Female, Homozygote, Humans, Intellectual Disability, Megalencephaly, Mutation, Missense, Phenotype, Polyhydramnios, Pregnancy, 1103 Clinical Sciences, 3202 Clinical sciences

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.