A redeemed strategy for molecular autopsy in unexplained infant deaths

Table 1 Positive results found by ES based on DBS

Single Nucleotide Variation (SNV)
Case	Gender	Death time	Gene	Chr	cHGVS	pHGVS	Exon	Zygosity	Mode	Type	Phenotype	Disease
Case 1	Male	3 years	LIG4	chr13	c.2141T > A	p.Leu714*	EX2E	Het	AR	LP	Congenital immunodeficiency	LIG4 syndrome (OMIM:606,593)
Case 1	Male	3 years	LIG4	chr13	c.833G > T	p.Arg278Leu	EX2E	Het	AR	P	Congenital immunodeficiency	LIG4 syndrome (OMIM:606,593)
Case 2	Male	2 years	CPA6	chr8	c.107G > A	p.Arg36His	EX1	Het	AD/AR	LP	Status epilepticus	Familial temporal lobe epilepsy 5 (OMIM:614,417)
Case 3	Female	2 years	GLB1	chr3	c.1343 A > T	p.Asp448Val	EX13	Het	AR	P	Congenital brain injury	GM1 gangliosidosis/β-galactosidase deficiency 1 (OMIM:230,500)
Case 3	Female	2 years	GLB1	chr3	c.1063 C > T	p.Gln355*	EX10	Het	AR	P	Congenital brain injury
Case 4	Male	2 years	RB1	chr13	c.607 + 1G > T		IVS6	Het	AD	P	Malignant tumors in both eyes	Retinoblastoma (OMIM:180,200)
Copy Number Variation (CNV)
Case	Gender	Death time	Result				Include coding genes				Phenotype	Disease
Case 5	Male	28 days	46,XN, del(11q23.3).seq[GRCh37/hg19](118,359,328–118,851,946)*1				ARCN1 DDX6 KMT2A(intron10-3’UTR) TREH, etc.				Leukemia	KMT2A gene is associated with mixed type leukemia.
Case 6	Male	3 years	46,XN, dup(13q33.3-q34).seq[GRCh37/hg19](107,220,767–110,807,744)*3				LIG4 COL4A1 IRS2, etc.				Brain tumor	COL4A1 gene is associated with autosomal dominant pons microvascular disease.

ISSN: 1479-5876