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. Author manuscript; available in PMC: 2016 Sep 1.
Published in final edited form as: Eur J Paediatr Neurol. 2016 May 30;20(5):714–722. doi: 10.1016/j.ejpn.2016.05.011

Table 3.

Molecular results of the patients.

Patient Disease Gene Type Kind Exon Mutation Reference
1 MoCD MOCS1 Homozygous Nonsense 2 c.253C > T (p.Q85*) Reiss et al. (2011)12
2 MoCD MOCS1 Homozygous Splice site Intron 8 c.1102 + 1G > A Reiss et al. (1998)16
3 MoCD MOCS1 Homozygous Missense 7 c.971G > A (p.G324E) Reiss. et al. (1998)16
4 MoCD MOCS1 Homozygous Nonsense 2 c.253C > T (p.Q85*) Reiss et al. (2011)12
5 MoCD MOCS1 Homozygous Frame shift 4 c.722_722delT (p.L241Rfs*6) Reiss et al. (2011)12
6 MoCD MOCS2 Homozygous Nonsense 1 c.3G > A
p.M1I		 Novel
7 SOD SUOX Homozygous Missense 2 c.713G > A
(p.G238Q*)		 Novel
8 SOD SUOX Homozygous Missense 6 c.884G > A (p.G295E) Novel
9 SOD SUOX Homozygous Missense 6 c.884G > A (p.G295E) Novel