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Article

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Italian journal of pediatrics - 27 Feb 2026

Boeri Silvia, Siri Laura, Martinez Popple Marina, Capra Valeria, Romano Ferruccio, Fedi Caterina, Nobili Lino

Abstract excerpt

BACKGROUND: The arginine methyltransferase 7 (PRMT7) gene plays a role in signal transduction and protein interactions and negatively regulates neuronal differentiation. Pathogenic variants of PRMT7 cause SBIDDS syndrome (Short stature, brachydactyly, intellectual developmental disability, and seizures). PRMT7 has been shown to interact with the argininosuccinate synthetase (ASS1) gene; biallelic pathogenic...

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Identifiers

PMID: 41761260
DOI: 10.1186/s13052-026-02196-8
PMCID: PMC13049994

Genes

PRMT7
ASS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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