Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

Table 3 Comparison of reported clinical presentations of patients with ATP6AP1-congenital disorders of glycosylation

Family	Case	Initial diagnosis/death age	cDNA mutation	Connective tissue abnormalities	Infections	Neurological symptoms	Hepatosplenomegaly
1[4]	1.1	20 yr	c.1284G>A	Bilateral inguinal hernias	+	-	Hepatomegaly
	1.2	12 yr		Bilateral inguinal hernias	+	+/-	-
	1.3	34 yr		Bilateral inguinal hernias	+	-	-
2[4]	2	14 yr	c.431T>C	NA	+	-	-
3[4]	3.1	8 yr	c.1036G>A	NA	+	+	+
	3.2	Died 4 yr		NA	+	+	+
4[4]	4.1	23 yr	c.1036G>A	NA	+	+	+
	4.2	18 yr		NA	+	+	+
5[4]	5.1	Died 12 mo	c.1036G>A	NA	+	+	+
	5.2	3 yr		NA	+	+	Hepatomegaly
6[4]	6	4 yr	c.938A>G	NA	+	-	Hepatomegaly
7[15]	7	5 mo	c.649T>A	CL, aortic root dilation, diaphragmatic hernia	+	-	+
8[12]	8	10 yr	c.542T>G	CL, joint hypermobility	+	+/-	+
9[13]	9.1	Died 3 mo	c.221T>C	CL	-	-	+
	9.2	Died 11 mo		CL	-	-	+
10[14]	10.1	NA	c.923T>A	Ascending aorta dilation	-	-	+
	10.2	Died 4 mo		Ascending aorta dilation, atrial septal defect	-	-	Hepatomegaly
11[21]	11	1.5 yr	NA	Joint hypermobility	+	-	+
12	12	8 mo	c.1036G>A	-	+	+	+

+: Abnormal; -: Normal; NA: Not available.