A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome.

ABSTRACT:

Introduction

Buratti-Harel syndrome (BURHAS) is a rare autosomal dominant neurodevelopmental disorder caused by SIAH1 (Siah1 E3 ubiquitin ligase) variants, characterized by infantile hypotonia, global developmental delay, and variable multisystem involvement. To date, 13 pathogenic SIAH1 variants have been reported in 13 patients, but the functional and phenotypic implications of mutations in the SIAH1 zinc finger domain remain poorly characterized. This study included a Chinese pediatric patient with unexplained neurodevelopmental and multisystem abnormalities.

Methods

Trio whole-exome sequencing (WES) was performed to identify potential causative variants. Structural modeling was used to analyze the impact of the identified variant on SIAH1 prot

SUBMITTER: Zheng H 

PROVIDER: S-EPMC12819744 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature