Table 2. The genotypes in 20 patients with MLC.

Pt	Gene	Mutation	Protein	mRNA	Mutation type	Novel/ Reported	Parental origin
1	MLC1	c.772-1G>C	Aberrant	No	Splicing	Reported	P
		c.594delCTCA	p.Y198X	No	Nonsense	Reported	M
2	MLC1	c.278C>T	p.S93L	No	Missense	Reported	P
		c.598-2A>C	Aberrant	Exon8 deletion	Splicing	Reported	M
3	MLC1	c.895-1G>A	Aberrant	No	Splicing	Reported	P
		c.824C>A	p.A275T	No	Missense	Novel	M
4	MLC1	c.772-1G>C	Aberrant	No	Splicing	Reported	P
		c.65G>A	p.R22Q	No	Missense	Reported	M
		c.634G>A	p.G212R	No	Missense	Reported	M
5	MLC1	c.881C>T	p.P294L	No	Missense	Novel	P
		c.596delCAgt	p.S199Cfs220X	No	Frame shift	Novel	M
6	MLC1	c.803C>G	p.T268R	No	Missense	Novel	P
		c.353G>T	p.T118M	No	Missense	Reported	M
7	MLC1	c.803C>G	p.T268R	No	Missense	Novel	P
		c.634G>A	p.G212R	No	Missense	Reported	M
8	MLC1	c.812T>C	p.L271P	No	Missense	Novel	P
		c.218G>A	p.G73E	No	Missense	Reported	M
9	MLC1	c.353C>T	p.T118M	No	Missense	Reported	P
		c.606G>C	p.E202D	No	Missense	Novel	M
10	MLC1	c.353C>T	p.T118M	No	Missense	Reported	P
		c.606G>C	p.E202D	No	Missense	Novel	M
11	MLC1	c.912_935del	p.307_314del	No	Small deletion	Novel	P
		c.962delG	p.G321Afs39X	No	Small deletion	Novel	M
12	MLC1	c.929_930insGCTGCT	p.309_310insLL	No	Insertion	Reported	P
		c.184C>T	p.L62F	No	Missense	Novel	M
13	MLC1	E4-E9deletion	-	No	Deletion	Novel	P
		E4-E9deletion	-	No	Deletion	Novel	M
14	MLC1	c.772-1G>C	Aberrant	No	Splicing	Reported	de novo
		c.772-1G>C	Aberrant	No	Splicing	Reported	M
15	MLC1	c.218G>A	p.G73E	No	Missense	Reported	M
		c.218G>A	p.G73E	No	Missense	Reported	M
16	MLC1	c.95C>T	p.A32V	No	Missense	Reported	M
	GlialCAM	c.274C>T	p.R92W	No	Missense	Reported	M
17	GlialCAM	c.274C>T	p.R92W	No	Missense	Reported	M*
		c.274C	p.R92	No	No		P
18	GlialCAM	c.274C>T	p.R92W	No	Missense	Reported	de novo
		c.274C	p.R92	No	No
19	GlialCAM	c.395C>A	p.T132N	No	Missense	Novel	P
		c.203A>T	p.K68M	No	Missense	Novel	M
20	MLC1	c.206C>T	p.S69W	No	Missense	Reported	P
		c.858C>G	p.I286M	No	Missense	Novel	P

Abbreviations: MLC, megalencephalic leukoencephalopathy with subcortical cysts; P, paternal; M, maternal; M*, maternal with macrocephaly.

GenBank accession No.NM_015166, position 1 is ‘A’ of the translation initiation codon.