This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype.
Our finding associates Elmod3 deficiencies with stereocilia dysmorphologies and reveals that it might play roles in the actin cytoskeleton dynamics in cochlear hair cells and thus relate to hearing impairment.