A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report.

ABSTRACT:

Background

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant disorder caused by pathogenic variants in the EFTUD2 gene, presenting with craniofacial anomalies, microcephaly, and systemic abnormalities. Despite several reported cases, the genetic and molecular mechanisms underlying MFDM remain inadequately understood. This case study identifies and analyzes a previously unreported EFTUD2 splice variant (NM_004247.4:c.492+1del), investigates its clinical phenotype, and analyzes genotype-phenotype correlations to improve early recognition and diagnosis of MFDM.

Case description

The patient had facial abnormalities (micrognathia, high-arched palate, microtia, and preauricular tags), a small head-to-body ratio, sensorineural hearing lo

SUBMITTER: Xu Y 

PROVIDER: S-EPMC12268581 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature