Intellectual Developmental Disorder of Autosomal Dominant 61 Caused by a MED13 Variant Presenting With Congenital...

We report the case of an eight-year-old male with global developmental delay (GDD), an intellectual developmental disorder (IDD), mild dysmorphic features, congenital unilateral sensorineural hearing loss (SNHL), and a supernumerary left maxillary central incisor. Whole-exome sequencing (WES), in a singleton analysis, identified a heterozygous frameshift variant in MED13 (RefSeq NM_005121.2:c.2691del, p.(Asp898IlefsTer14)), confirmed de novo by parental testing and classified as pathogenic. Pathogenic MED13 variants can cause the rare neurodevelopmental disorder IDD, autosomal dominant 61 (MRD61; OMIM 618009), also referred to as MED13-related syndrome. The patient's phenotype overlapped with those of previous cases but also included congenital unilateral SNHL and a supernumerary left maxillary central incisor. These findings may expand the known phenotypic spectrum of MRD61. This case is also consistent with haploinsufficiency as the disease mechanism for truncating MED13 variants in MRD61, underscoring the importance of exome sequencing in patients with neurodevelopmental disorders and congenital anomalies.