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Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.

Genes - 29 Mar 2024

Benvenuto Mario, Cesarini Sofia, Severi Giulia, Ambrosini Enrico, Russo Angelo, Seri Marco, Palumbo Pietro, Palumbo Orazio, Castori Marco, Panza Emanuele, Carella Massimo

Abstract excerpt

O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder caused by mutations in the KMT2E gene. The clinical phonotype of the affected individuals is typically characterized by global developmental delay, autism, epilepsy, hypotonia, macrocephaly, and very mild dysmorphic facial features. In this report, we describe the case of a 6-year-old boy with ODLURO syndrome who is a carrier of the...

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Identifiers

PMID: 38674365
DOI: 10.3390/genes15040430
PMCID: PMC11049644

Genes

KMT2E

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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