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Related Experiment Video

Updated: May 8, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Liza Douiev¹, Paula Fernandez Alvarez^2,3,4, Marika Frank⁵

¹Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.

American Journal of Medical Genetics. Part A

|March 29, 2025

Summary

This summary is machine-generated.

Pathogenic variants in SIAH1, a gene regulating Wnt signaling and protein degradation, cause a neurodevelopmental syndrome. This study expands the known symptoms, highlighting multi-system impacts of SIAH1 gene variations.

Keywords:

SIAH1 E3 ubiquitin ligase exome sequencing loss‐of‐function phenotypic expansion

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Area of Science:

Genetics
Molecular Biology
Neurodevelopmental Disorders

Background:

SIAH1 encodes an E3 ubiquitin ligase crucial for protein ubiquitination.
It regulates Wnt signaling by promoting beta-catenin accumulation and mediates Akt3 degradation in neural development.
Previously, heterozygous de novo pathogenic variants in SIAH1 were linked to developmental delay, hypotonia, and dysmorphic features.

Purpose of the Study:

To present clinical and genetic findings in additional individuals with pathogenic SIAH1 variants.
To expand the understanding of the phenotypic spectrum associated with SIAH1 variations.
To emphasize the multi-system clinical manifestations of SIAH1-related disorders.

Main Methods:

Clinical evaluation of individuals from eight unrelated families.
Genetic analysis to identify variants in the SIAH1 gene.
Phenotypic characterization including neurodevelopmental, physical, and systemic features.

Main Results:

Two missense and six predicted loss-of-function variants in SIAH1 were identified.
All individuals presented with motor and speech delay and intellectual disabilities of varying severity.
Infantile hypotonia, facial dysmorphism, hearing loss, gastrointestinal issues, endocrinology abnormalities, and recurrent infections were frequently observed.

Conclusions:

This study broadens the phenotypic spectrum of the SIAH1-related neurodevelopmental syndrome.
SIAH1 variations have a diverse impact on multiple organ systems.
Early identification and comprehensive management are crucial for individuals with SIAH1 pathogenic variants.