Acid ceramidase deficiency: Farber disease and SMA-PME

Table 4 Reported Mutations in ASAH1 that result in SMA-PME

DNA Change	Mutation type	Locus	Amino acid change	Allelic status	ACDase activity	Number of cases	Reference
c.77C > G	Missense	Exon 1	p.P26R	Heteroallelic	NI	1	[200]
c.124A > G	Missense	Exon 2	p.T42A	Homoallelic & Heteroallelic	< 10%	4	[43, 47, 49]
c.125C > T	Missense	Exon 2	p.T42M	Homoallelic	32%	12	[36, 44,45,46, 153, 201]
c.125 + 1G > A	Insertion	Intron 2	–	Heteroallelic	NI	2	[49, 200]
c.177C > G	Nonsense	Exon 3	p.Y59*	Heteroallelic	NI	1	[44]
c.223_224insC	Insertion	Exon 3	pV75Afs*6	Heteroallelic	NI	1	[44]
c.410A > G	Missense	Exon 6	p.Y137C	Heteroallelic	NI	1	[48]
c.456A > C	Missense	Exon 6	p.K152N	Heteroallelic	< 20%	5	[44, 48, 49, 91]
c.518A > T	Missense	Exon 8	p.N173I	Heteroallelic	< 10%	1	[37]
c.536C > T	Missense	Exon 8	p.T179I	Heteroallelic	NI	3	[43, 49]
c.594_599dupCTTCAA	Duplication	Exon 8	F199_K200dup	Heteroallelic	< 10%	1	[37]
c.850G > T	Nonsense	Exon 11	p.G284X	Heteroallelic	< 10%	1	[145]
c.886C > T	Missense	Exon 11	p.R296X	Heteroallelic	< 20%	1	[91]

List of ASAH1 mutations reported in the literature that result in SMA-PME. Only pathogenic mutations are included. The number of cases column indicates any case in which one allele carries a mutation. Patients with compound mutations that are pathogenic are listed twice. The listed residual enzyme activity is expressed as a percent of the normal control; NI not indicated

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