A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

ABSTRACT:

Background

Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.

Methods

We report two patients with pathogenic HSPA9 variants from a Chinese family. Besides the core clinical features of EVEN-PLUS syndrome, the two cases had seizures, developmental delay, and basal ganglia lesions in cerebral MRI. We also reviewed the previously published reports of patients with biallelic pathogenic HSPA9 variants.

Results

Together with the presented cases, 12 cases (9 females) were identified from 6 relevant research item

SUBMITTER: Liu M 

PROVIDER: S-EPMC10797836 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature