Jordan syndrome due to <i>PPP2R5D</i> gene mutation: a report of two pediatric cases and literature review.

ABSTRACT:

Background

Jordan syndrome is a rare neurodevelopmental disorder caused by mutations in the PPP2R5D gene. It is characterized by developmental delay, macrocephaly, hypotonia, epilepsy, and autism spectrum disorder. This study aims to enhance clinical recognition of the disease by presenting two genetically confirmed cases and a comprehensive literature review.

Case description

This study retrospectively analyzed two unrelated male patients diagnosed with Jordan syndrome, both carrying the heterozygous PPP2R5D variant c.598G>A (p.Glu200Lys), confirmed as de novo. Both patients exhibited global developmental delay, macrocephaly, dysmorphic facial features, and abnormal cranial magnetic resonance imaging (MRI) findings. One patient also presented with epile

SUBMITTER: Huang Y 

PROVIDER: S-EPMC12683426 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature