The spliceosome mediates pre-mRNA splicing and it is essential for removing introns from the pre-mRNAs. More than 150 proteins participate in the splicing process and are organized in the spliceosomal A, B, and C complexes. The FRA10AC1 protein, part of the spliceosomal C complex, is crucial for recognizing and interacting with splice sites.
Recently, FRA10AC1 (MIM: #608866) bi-allelic variants were associated with neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC)1,2,3. To date, only a limited number of cases have been reported, comprising 13 affected individuals from eight unrelated families, presenting with a broad clinical spectrum, ranging from severe neurological abnormalities with various organ malformations to mild intellectual disability.
Here, we report five new cases from three unrelated consanguineous families, all exhibiting similar neurodevelopmental symptoms. Notably, in addition to the main clinical features, our patients also had turribrachycephaly, synpolydactyly, ocular issues, autistic features, and/or Hirschsprung disease.