Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder

Abstract

The EMC10-Related Neurodevelopmental Disorder (also known as NEDDFAS for Neurodevelopmental Disorder with Dysmorphic Facies and variable Seizures) is an autosomal recessive syndrome characterized by global developmental delay, intellectual disability, microcephaly, seizures, renal abnormalities, and minor facial dysmorphic features. We report an individual with developmental delay and intellectual disability, harboring a homozygous pathogenic mutation in EMC10 (NM_206538.4, c.343C>T, p.(Arg115Ter)), identified through exome reanalysis. Notably, this patient presents gingival hyperplasia and scoliosis, features previously associated with EMC1 mutations, but not with EMC10 mutations. Here, we not only broaden the phenotypic spectrum of EMC10-Related Neurodevelopmental Disorder, but also underscore the importance of exome reanalysis in clinical practice.