Skip to main content

Advertisement

Table 1 Rare and novel CNVs identified from Chinese infantile spasms children

From: 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

Subject Sex Onset of IS (month) EEG (HYPS+/-) Genomic location/coordinates (hg19) Genomic event Size Inheritance Candidate gene(s)
Pathogenic         
S100 M 4 + chr17:2,405,454-2,520,464 Del 115 Kb De novo PAFAH1B1
S37 M 5 + chr1:244,961,797-247,074,490 Del 2.1 Mb De novo HNRNPU
S162 F 6 - chr2:147,953,313-152,061,251 Del 4.1 Mb De novo MBD5
S67 F 10 + chr1:145,764,453-147,824,207 Dup 2.0 Mb De novo CHD1L
Unknown clinical significance         
S15 F 2 + chr10:84,222,075-85,293,140 Dup 1.0 Mb Paternal NRG3
S34 M 5 + chrX:102,262,951-102,659,333 Dup 396 kb Maternal NGFRAP1
S134 F 4 + chr17:14,111,754-15,442,119 Del 1.3 Mb Paternal PMP22
S163 F 4 + chrX:6,451,691-8,115,193 Dup 1.6 Mb Paternal STS,VCX3A
S165 M 5 + chr11:101,857,720-102,256,635 Del 398 kb De novo YAP1
Probably benign         
S2 M 3 + chr2:216,898,976-217,160,487 Dup 261 kb Not determined  
S34 M 5 + chr2:137,826,656-138,048,583 Dup 221 kb Paternal  
S42 M 4 + chr4:48,983,002-49,063,489 Dup 80 kb Paternal  
S75 M 6 + chr6:118,989,529-120,238,639 Dup 1.2 Mb Not determined  
S133 M 13 - chr8:135,644,952-135,791,363 Dup 146 Kb De novo