A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Table 3 Comparison between this study and published CNV and WES studies of infantile spasms

CNV studies					WES (epi4K)^4,18
No of case	This study	Mefford, et al[37]	Tiwari, et al[8]	Paciokowski, et al[7]	Epi4K Consortium & Epilepsy Phenome/Genome Project
	47	44	13	N/A (clinical case series from diagnostic lab)	infantile spasms ( n = 149) Lennox–Gastaut syndrome (n = 115).
Pathogenic/Possible pathogenic CNV	4	3	4	11	329 de novo mutation
	De novo:	De novo:	De novo:	De novo:	Mutations in more than one proband
	17p13 115 kb del	Xp22 290 kb del	15q11 4.8 Mb dup	2p16.1 4.0 Mb del	SCN1A; STXBP1; GABRB3;
	1q44 2.1 Mb del	16p11. 2.5 Mb dup	16p11.2 595 kb del^a	3p26.3 1.6 Mb dup	CDKL5; SCN8A; SCN2A;
	2q23.1 4.1 Mb del	3q11 1.64 Mb dup	Xp22.11 del^a,b	7q11.23 1.4 Mb del	ALG13; DNM1; HDAC4
	1q21 2.1 Mb dup			14q12 3.3 Mb dup
			Inherited:	14q32.3 317 kb dup	Other candidate genes:
			2q32.3 421 kb del	15q11-q13 5.3 Mb dup	CACN1A; CHD2; FLNA;
				19q12 1.3 Mb del	GABRB1; GRIN1; GRIN2B;
				20p13 1.9 Mb del	HNRNPU; IQSEC2; MTOR;
				21q21 1.3 Mb dup	NEDD4L
				21q21 1.3 Mb dup
				Xp22.2 435 kb dup
				Unknown
				2q24.3 21.5 Mb dup

ISSN: 1471-2350