Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

Table 2

The ARSA genotypes in 21 Chinese MLD patients.

Pt. ID	Mutation	Genetic	Reported	Heritage
1	c.251C>A (pPro84Gln)	Hetero	Novel	Father
1	c.1172T>G (p.Val391Gly)	Hetero	Novel	Mother
2	c.1172T>G (p.Val391Gly)	Homo	Novel	Father and mother
3	c.960G>A (p.Trp320Term)	Homo	Novel	Father and mother
4	c.911A>T (p.Lys304Ile)	Hetero	Novel	Father
4	c.1049T>A (p.Leu350Gln)	Hetero	Novel	Mother
5	c.917C>T (P.Thr306Met)	Hetero	Reported	Father
5	c.827C>T (P.Thr276Met)	Hetero	Reported	Mother
6	c.925G>A (p.Glu309Lys)	Hetero	Reported	Father
6	c.427T>C (p.Phe143Leu)	Hetero	Novel	Mother
7	c.1130_1132delTCT	Hetero	Novel	Father
7	c.1238A>G (p.Asp413Gly)	Hetero	Novel	Mother
8	c.244C>T (p.Arg82Trp)	Hetero	Novel	Father
8	c.179_180insCA	Hetero	Reported	Mother
9	c.1130_1132delTCT	Hetero	Novel	Father
9	c.853C>G (p.Asp283Glu)	Hetero	Novel	Mother
10	c.218C>T (p.Pro73Leu)	Hetero	Novel	Father
10	c.827C>T (P.Thr276Met)	Hetero	Reported	Mother
11	c.32T>C (p.Leu11Pro)	Hetero	Novel	Mother
11	c.1108-20A>G	Hetero	Novel	Father
12	c.257G>A (p.Arg86Gln)	Hetero	Reported	Mother
12	c.482T>C (p.Leu161Pro)	Hetero	Novel	Father
13	c.925G>A (pGlu309Lys)	Hetero	Reported	Mother
13	c.302G>T (pGly101Val)	Hetero	Reported	Father
14	c.465G>A (p.Lys125ProfsX17)	Hetero	Novel	Father
14	ARSA del?			Mother
15	c.610C>G (p.Arg204Gly)	Hetero	Novel	Mother
15	c.44G>T (p.Gly15Val)	Hetero	Novel	Father
16	c.640G>A (p. Ala214Thr)	Hetero	Novel	Mother
16	c.893G>T (p.Gly298Val)	Hetero	Novel	Father
17	c.754T>C (p.Ser252Pro)	Hetero	Novel	Father
17	c.1344_1345insCC	Hetero	Novel	Mother
18	c.302_303insG	Hetero	Novel	Father
18	c.1428_1429insC	Hetero	Novel	Mother
19	c.1160G>T (p.387Gly>Val)	Hetero	Novel	Mother
19	IVS3+2T>C	Hetero	Novel	Spontaneous
20	c.830T>C (p.Leu277Pro)	Hetero	Novel	Father
20	c.383T>C (p.Leu128Pro)	Hetero	Novel	Mother
21	c.466G>C (p.Gly156Arg)	Hetero	Novel	Father
21	c.629T>C (pLeu210Pro)	Hetero	Novel	Mother

indicates that mutations were detected more than once in this study.