CNTN6 and Duchenne muscular dystrophy: Among the CNVs that we identified (Table 1), we found a maternal deletion of 29 kb including the fifth exon of the X-linked Duchenne muscular dystrophy (DMD) gene in a patient carrying a paternal CNTN6 duplication, a paternal duplication of 285 kb including all exons of Nephrocystine 1 (NPHP1) gene in a patient carrying a maternal CNTN6 deletion, and a paternal duplication of 873 kb including the first exon of the glutamate receptor ionotropic delta 2 gene (GRID2) in a patient carrying a de novo CNTN6P770S variant.