Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Defects in the small nuclear RNA gene RNU4ATAC are a cause of MOPD1. A common founder variant, n.51G>A, in the RNU4ATAC gene has been reported in the Old Order Amish population. This targeted test will specifically analyze the n.51G>A variant.
1 - 2 weeks