Table 1.

BHCMG-GREGoR cases solved/explained by pathogenic homozygous duplications

Family	Proband	Orthogonal methods for CNV assessment	Variant allele
HOU2049	BAB5192	ddPCR segregation; breakpoint PCR	TNNT1, NM_003283.6; hmz dup exon 10–11
HOU2022	BAB5092, BAB5094	ddPCR segregation; breakpoint PCR	EDAR, NM_022336.4; hmz dup exon 6–8
HOU3122	BAB8590	ddPCR segregation; aCGH	PAAF1, NM_025155.3; hmz dup exon 5–6

hmz, homozygous; ddPCR, digital droplet polymerase chain reaction; dup, duplication.