Table 1.

ASAH1 mutations found in FP and FC involved in present study (results obtained with ASAH1 transcript NM_004315.4).

Pat-ID.	Phenotype/Diagnosis	Age	Coding effect	cDNA change	Mutation type	Locus	Allele zygosity	Reference
1	FP	juvenile	p.Trp185Arg	c.553T > C	Missense	Exon 8	Heterozygous	51
			p.Lys382Gln	c.1144A > C	Missense	Exon 13	Heterozygous	Novel*
2	FP	newborn	p.Arg349Cys	c.1045C > T	Missense	Exon 12	Homozygous	Novel*
3	FP	juvenile	p.Trp185Arg	c.553T > C	Missense	Exon 8	Homozygous	51
4	FP	juvenile	—	c.752-2A > G	Splicing	Intron 9	Homozygous	Novel*
5	FP	juvenile	p.Cys47Phe	c.140G > T	Missense	Exon 2	Homozygous	Novel*
6	FP	newborn	p.Tyr458Cys	c.458A > G	Missense	Exon 6	Homozygous	Novel*
7	FP	juvenile	p.Tyr52Cys	c.155A > G	Missense	Exon 2	Homozygous	52
8	FP	juvenile	p.Tyr52Cys	c.155A > G	Missense	Exon 2	Heterozygous	52
			p.Arg349Gly	c.1045C > G	Missense	Exon 12	Heterozygous	51
9	SMAPME	adult	—	c.173 + 1G > A	Splicing	Intron 2	Heterozygous	Novel*
			p.Lys168Asn	c.504A > C	Missense	Exon 6	Heterozygous	51
10	SMAPME	adult	p.Thr58Ala	c.172A > G	Missense	Exon 2	Heterozygous	53
			p.Thr195Ile	c.584C > T	Missense	Exon 8	Heterozygous	54
11	FC	adult	p.Pro142Thr	c.424C > A	Missense	Exon 5	Heterozygous	Novel*
12	FC	adult	p.Lys382Gln	c.1144A > C	Missense	Exon 13	Heterozygous	Novel*
13	FC	adult	p.Tyr52Cys	c.155A > G	Missense	Exon 2	Heterozygous	52
14	FC	juvenile	p.Pro142Thr	c.424C > A	Missense	Exon 5	Heterozygous	Novel*
15	FC	adult	p.Pro294Leu	c.881C > T	Missense	Exon 11	Heterozygous	Novel*
16	FC	adult	p.Pro294Leu	c.881C > T	Missense	Exon 11	Heterozygous	Novel*
17	FC	adult	p.Trp185Arg	c.553T > C	Missense	Exon 8	Heterozygous	51
18	FC	newborn	—	c.1089 + 1G > C	Splicing	Intron 12	Heterozygous	Novel*
19	FC	adult	p.Trp185Arg	c.553T > C	Missense	Exon 8	Heterozygous	51
20	FC	adult	p.Tyr52Cys	c.155A > G	Missense	Exon 2	Heterozygous	52
21	FC	juvenile	p.Trp185Arg	c.553T > C	Missense	Exon 8	Heterozygous	51

FP = Farber patients, SMAPME = spinal muscular atrophy associated with progressive myoclonic epilepsy, FC-asymptomatic Farber carriers, Newborn = patients or carriers with age up to 6 months, Juvenile = patients or carriers with age 6 months to 4 years, Adults = patients or carriers with plus 17 years old. *CentoMD (https://www.centomd.com).