Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports

Table 1 Summary of clinical manifestations of 21 children reported in the literature and in this study since 2013

Source in the order of report time	Serial number	Gender	Nervous system (21, 100%)			Eyes (6, 28.6%)			Muscles (12, 63.2%)
			Development of movement and cognition is lagging behind (21, 100%)	Epilepsy (9, 52.6%)	Low muscle tension (11, 64.3%)	Optic nerve atrophy	Palpebral fissure deformity	Others	Increased creatinase (maximum creatinase value or range) U/L
2013 Stevens et al[9]	Sporadic 1	Male	+	-	-	+	-	-	+ (1132)
	Sporadic 2	Male	+	-	-	-	-	-	+ (894)
	Sporadic 3	Female	+	+	+	+	-	Blo	+ (21000)
	Pedigree; 5; 1	Male	+	+	+	-	+	Rcg, lc	+ (6964)
		Female	+	+	+	NA	NA	B	(NA)
	Sporadic 6	Female	+	-	-	-	-	NA	+ (1740)
	Sporadic 7	Male	+	-	+	-	+	-	+ (1086)
2014 Hedberg et al[11]	Sporadic 8	Female	+	-	+	-	-	-	+ (647)
2017 Ho et al[12]	Pedigree 2 9	Male	-	-	+	-	-	-	+ (300-900)
	10	Male	-	-	+	-	-	-
	11	Unknown	-	-	+	-	-	-
2017 Maroofian et al[13]	Pedigree 3	Male	+	-	-	-	-	-	-
	12; 13	Male	+	-	-	-	-	-	NA
	Pedigree	Male	+	+	NA	-	-	-	-
	4	Male	+	+	NA	-	-	-	-
		Female	+	+	NA	-	-	-	-
	14	Female	+	+	NA	-	-	-	-
	15; 16; 17; 18	Female	+	+	NA	-	-	-	-
2018 AI et al[14]	Sporadic 19	Female	+	+	+	NA	+	B	+ (2565)
This report	Sporadic 20	Male	+	-	+	-	-	-	-
	Sporadic 21	Male	+	-	+	-	-	-	+ (952)

”+” indicates presence of the manifestation; “–“ indicates absence of the manifestation; and “NA” indicates that results were not obtained; Blo: Bilateral lens opacities; Rcg: Right-sided congenital glaucoma; Lc: Left-sided microphthalmia and cataract.

Table 2 Summary of the examinations of 21 children reported in the literature and in this study since 2013

Source in the order of report time	Serial number	Head MRI						Mutant genotype
		Hydrocephalus (5, 31.3%)		White matter lesions (13, 81.3%)	Cerebellar cortical cyst (8, 50%)	Neuronal migration disorder (polymicrogyria and cobblestone-like no gyrus) (11, 68.8%)	Brain stem and/or cerebellum dysplasia (9, 56.3%)
2013 Stevens et al[9]	Sporadic 1	-		+	+	+	-	c.740G>A (p.G247E); c.875G>C (p.R292P)
	Sporadic 2	-		+	+	+	+	c.51_73dup; p.S25Cfs*38 (homozygous)
	Sporadic 3	+		-	-	+	+	c.726_727del (p.V243Efs*2); c.822_823dup (p.I276Lfs*26)
	1	4	+	-	-	+	-	c.308_309del (p.V103Gfs*10); c.755T>G (p.V252E)
	Pedigree 1	5	+	+	-	+	-	NA
	Sporadic 6	-		+	-	-	+	c.802G>A (homozygous) (p.V268M)
	Sporadic 7	+		-	-	+	-	c.1423C>T (homozygous) (p.Gln475*)
2014 Hedberg et al[11]	Sporadic 8	-		+	+	-	+	c.192dupT (p.Efs*); c.979G>A (p.D327N)
2017 Ho et al[12]	Pedigree 2	9	-	+	+	+	+	NA
		10	-	+	+	+	+
		11	-	+	+	+	+
2017 Maroofian et al[13]	Pedigree 3	12	-	+	-	-	-	c.822_823dup (p.I276Lfs*263); c.988C>T (p.R330C)
		13	NA	NA	NA	NA	NA
	Pedigree 4	14	-	+	-	-	-	c.979G>A (homozygous) (p.D327N)
		15	NA	NA	NA	NA	NA
		16	NA	NA	NA	NA	NA
		17	NA	NA	NA	NA	NA
		18	NA	NA	NA	NA	NA
2018 AI et al[14]	Sporadic 19	+		+	-	+	+	c.448C>T (homozygous) (p.R150*)
This report	Sporadic 20	-		+	+	-	-	c.1068dup T (p.D357_ D358delin sX); c.40G>C (p.G14R)
	Sporadic 21	-		+	+	+	+	c.261-2A>G (splicing); c.979G>A (p.D327N)

”+” indicates presence of the manifestation; “–“ indicates absence of the manifestation; and “NA” indicates that results were not obtained; MRI: Magnetic resonance imaging.