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New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2025

Ceraolo Graziana, Spoto Giulia, Butera Ambra, Spanò Maria, Vinci Mirella, Vitello Girolamo Aurelio, Musumeci Antonino, Calì Francesco, Nicotera Antonio Gennaro, Di Rosa Gabriella

Abstract excerpt

TRMT10A is related to a syndrome characterized by early-onset diabetes mellitus, microcephaly, epilepsy, and intellectual disability. We report a case of a patient showing spastic-ataxic paraparesis and Dandy-Walker variant associated with a causative homozygous c.421-1G > A variant in the TRMT10A gene, affecting a canonical splicing site. This mutation disrupts the "SAM-dependent methyltransferase TRM10-type...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39440920
DOI: 10.1002/ajmg.b.33015

Genes

TRMT10A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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