A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Table1 Details of the 22q13.3 deletions in 20 individuals with PMS

Patient	Ascertainment method	Rearrangement	Array coordinates (hg19)	Deletion or duplication size (kb)	Genes	Inheritance	Other chromosome
P1	SNP	Deletion	2,243,352,384–51,197,766	7987	Many	NK	None
P2	SNP	Deletion	43,428,841–51,197,766	7956	Many	De novo	None
P3	aCGH	Deletion	45,193,180–51,178,213	6042	Many	De novo	None
P4	SNP	Duplication and	(43,199,808–47,056,500) × 3;	3891	Many	NK	None
		Deletion	47,056,555–51,197,766	4044	Many
P5	SNP	Deletion	43,629,482–51,197,766	7568	Many	NK	None
P6	aCGH	Deletion	46,615,777–51,178,213	4710	Many	NK	None
P8	SNP	Deletion	46,688,687–51,220,738	4426	Many	NK	None
P9	SNP	Deletion	51,073,379–51,197,838	124	Many	NK	None
P15	SNP	Deletion	51,121,363–51,197,766	76	SHANK3, ACR	De novo	None
P16	SNP	Deletion	43,674,432–51,139,778	7649	Many	NK	None
P17	SNP	Deletion	47,486,331–51,183,840	3698	Many	NK	None
P18	SNP	Deletion	48,100,752–51,177,162	3004	Many	NK	None
P19	QPCR	Deletion	51,121,768–51,121,840; 51,158,612–51,160,865	57	SHANK3	De novo	None
P20	SNP	Deletion	51,128,324–51,197,766	69	SHANK3, ACR	NK	None
P21	SNP	Deletion	49,882,209–51,197,726	1316	Many	NK	None
P23	SNP	Deletion	50,990,475–51,115,526	125	Many	NK	None
P25	WES	Deletion	42,522,566–51,216,419	8909	Many	NK	None
P26	MLPA	Deletion	51,123,013–51,169,790	46	SHANK3	NK	None
P27	SNP	Deletion	51,135,991–51,169,740	34	SHANK3	NK	None
P29	SNP	Deletion	50,155,448–51,197,766	1042	Many	NK	None

NK not known, WES whole exome sequencing, aCGH array-CGH, SNP single nucleotide polymorphism, MLPA multiplex ligation-dependent probe amplification, QPCR quantitative real-time PCR

ISSN: 1750-1172