Table 1. Summary of molecular and clinical symptoms of 15 individuals with PUM1 mutations.

Mb, megabase; nt, nucleotide; –, not known. *Subject 9’s clinical details were taken from Wilson BT., et al, 2015 (Wilson et al., 2015) and Decipher (Firth et al., 2009). R, Arginine; W, Tryptophan; S, Serine; T, Threonine. Subj., Subjects; AD, autosomal dominant inheritance. See also Table S1 and S3.

PADDAS syndrome												PRCA syndrome
Feature	Subj. 1	Subj. 2	Subj. 3	Subj. 4	Subj. 5	Subj. 6	Subj. 7	Subj. 8	Subj. 9*	Subj. 10	Subj. 11	Subj. 12	Subj. 13	Subj. 14	Subj.15
Gender	–	–	male	–	–	–	male	female	female	female	female	female	female	female	male
Current age	–	–	16 years	–	–	–	2 years	6 months	7 years	9 years	9 years	59 years	58 years	52 years	81 years (deceased)
Age of onset	–	–	–	–	–	–	–	–	–	< 5 years	5 months	early 30s	early 30s	early 40s	early 50s
Chr1 (hg19):	28751378- 33588455	29600988- 31598923	28716929- 32629424	31442430- 31720099	31284806- 31872758	31239605- 33825029	31113947- 32897001	28743173- 34340430	31091243- 33142346	31409510	31406186	31414862	31414862	31414862	31414862
Size	4.84 Mb	1.9 Mb	3.91 Mb	0.3 Mb	0.6 Mb	2.6 Mb	1.78 Mb	5.6 Mb	2.05 Mb	1 nt	1 nt	1 nt	1 nt	1 nt	1 nt
Nucleotide change	deletion	deletion	deletion	deletion	deletion	deletion	deletion	deletion	deletion	G > A	G > A	T > A	T > A	T > A	T > A
AA change										R1139W	R1147W	T1035S	T1035S	T1035S	T1035S
Type	deletion	deletion	deletion	deletion	deletion	deletion	deletion	deletion	deletion	missense	missense	missense	missense	missense	missense
Inheritance	–	–	de novo	–	–	–	–	de novo	de novo	de novo	de novo	AD	AD	AD	AD
Developmental delay	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	no	no	no	no
Intellectual disability	yes	–	yes	yes	yes	yes	–	yes	yes	no	yes	no	no	no	no
Seizures	yes	–	no	yes	–	–	yes	no	–	–	yes	no	no	no	no
Ataxia	yes	yes	no	yes	–	–	yes	yes	yes	yes	yes	yes	yes	yes	yes
Progressive	–	–	yes	–	–	–	–	–	–	no	yes	yes	yes	yes	yes