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.

中文翻译：

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羊水过多、巨脑畸形和症状性癫痫综合征患者的纯合错义 STRADA 突变。

STRADA 中的纯合子或复合杂合子突变会导致羊水过多、巨脑症和症状性癫痫综合征 (PMSE)，并具有独特的面部特征和严重的发育迟缓或智力障碍等其他特征。该综合征首先在 16 名旧门诺派患者中定义，携带外显子 9-13 的纯合 STRADA 缺失。此后又报告了五名 PMSE 患者，他们每个人都有功能丧失的变异。我们报告了一名具有 PMSE 典型临床特征的女性患者，该患者是外显子 10 中新型 STRADA 错义突变 c.792T>A（p.Ser264Arg）的纯合子。这一发现有助于进一步描述 PMSE 的表型。