Acid ceramidase deficiency: Farber disease and SMA-PME

Yu, Fabian P. S.; Amintas, Samuel; Levade, Thierry; Medin, Jeffrey A.

doi:10.1186/s13023-018-0845-z

Orphanet Journal of Rare Diseases

Table 3 Reported Mutations in ASAH1 that result in FD

From: Acid ceramidase deficiency: Farber disease and SMA-PME

DNA Change	Mutation type	Locus	Amino acid change	Allelic status	ACDase activity	Number of cases	Reference
c.66G > C	Missense	Exon 1	p.Q22H	NI	NI	1	[195]
c.67C > G	Missense	Exon 1	p.H23D	NI	NI	1	[195]
c.92G > T	Missense	Exon 2	p.C31F	Homoallelic	NI	2	[49, 115]
c.107A > G	Missense	Exon 2	p.Y36C	Homoallelic & Heteroallelic	NI	4	[49, 196]
c.126-3941_382 + 1358del	Deletion	Exon 3–5	p.Y42Rfs*10	Heteroallelic	undetectable	1	[197]
c.174_175InsC	Insertion	Exon 3	p. E64*	Heteroallelic	NI	1	[169]
c.212C > A	Missense	Exon 3	p.P71Q	Heteroallelic	NI	1	[198]
c.256_257insA	Insertion	Exon 4	p.T86Nfs*13	Heteroallelic	NI	1	[17]
c.290_292delTGG	Deletion	Exon 4	p.V96del	Homoallelic	37%	1	[199]
c.290 T > A	Missense	Exon 4	p.V97E	Heteroallelic	35%	1	[199]
c.290 T > G	Missense	Exon 4	p.V97G	Homoallelic	NI	2	[120]
c.314 T > C	Missense	Exon 4	p.L105P	Heteroallelic	NI	1	[17]
c.383-16_383-12delTTTTC	Deletion	Intron 5	–	Heteroallelic	NI	1	[131]
c.372 T > A	Missense	Exon 6	p.D124E	Heteroallelic	NI	1	[198]
c.408 T > A	Missense	Exon 6	p.F136L	Heteroallelic	NI	1	[131]
c.412G > T	Deletion	Exon 6	p.E139*	Heteroallelic	NI	1	[169, 196]
c.410A > G	Missense	Exon 6	p.Y137C	Homoallelic	NI	1	[49]
c.410_411delAT	Deletion	Exon 6	p.Y137*	Heteroallelic	NI	2	[114, 169]
c.413A > T	Missense	Exon 6	p.E138V	Homoallelic & Heteroallelic	< 5%	5	[41, 50, 169, 196]
c.457 + 4A > G	Splicing	Intron 6	–	Homoallelic	NI	2	[121, 131]
c.502G > T	Missense	Exon 7	p.G168W	Homoallelic	undetectable	1	[126]
c.505 T > C	Missense	Exon 8	p.W169R	Homoallelic & Heteroallelic	< 10%	7	[49, 53, 93, 131]
c.538G > A	Missense	Exon 8	p.E180K	Heteroallelic	NI	1	[131]
c.544C > G	Missense	Exon 8	p.L182V	Homoallelic	NI	4	[107, 131]
c.593 T > C	Missense	Exon 8	p.V198A	Heteroallelic	NI	1	[131]
c.626G > A	Missense	Exon 8	p.G209D	Heteroallelic	NI	1	[169]
c.665C > A	Missense	Exon 9	p.T222K	Homoallelic	< 5%	1	[6, 196]
c.677G > C	Missense	Exon 9	p.R226P	Heteroallelic	NI	1	[131]
c.703G > C	Missense	Exon 9	p.G235A	Homoallelic & Heteroallelic	2%	3	[131, 199]
c.704G > A	Missense	Exon 9	p.G235D	Heteroallelic	NI	1	[114]
c.704-2A > G	Splicing	Exon 9	–	Homoallelic	NI	1	[49]
c.760A > G	Missense	Exon 10	p.R254G	Homoallelic & Heteroallelic	< 10%	4	[41, 54, 93, 169, 198]
c.770 T > C	Missense	Exon 10	p.L257P	Homoallelic	NI	1	[55]
c.833C > T	Missense	Exon 11	p.P278L	Homoallelic	NI	2	[8, 169]
c.917 + 4A > G	Splicing	Intron 11	–	Heteroallelic	NI	1	[197]
c.917 + 5G > A	Splicing	Intron 11	–	Homoallelic	NI	1	[169]
c.958A > G	Missense	Exon 12	p.N320D	Homoallelic	< 15%	1	[196]
c.959A > G	Missense	Exon 12	p.N320S	Homoallelic	NI	1	[131]
c.991G > A	Missense	Exon 12	p.D331N	Heteroallelic	NI	1	[169, 196]
c.997C > T	Missense	Exon 12	p.P333C	Homoallelic & Heteroallelic	NI	3	[49, 92]
c.997C > G	Missense	Exon 12	p.P333G	Heteroallelic	NI	4	[49, 131]
c.998G > A	Missense	Exon 12	p.P333H	Homoallelic	NI	1	[131]
c.1085C > G	Missense	Exon 13	p.P362R	Homoallelic	< 5%	2	[41]
c.1084C > A	Missense	Exon 13	p.P362T	Heteroallelic	NI	1	[131]
c.1096A > C	Missense	Exon 13	p.K366Q	Heteroallelic	NI	2	[49, 53]
c.1105G > A	Missense	Exon 13	p.V369I	Heteroallelic	NI	1	[199]
c.1098 + 1G > T	Splicing	Intron 13	p.N348_K366del	Heteroallelic	NI	1	[196]
c.1175A > G	Missense	Exon 14	p.R254G	Heteroallelic	NI	1	[169]
c.1186_1187insT	Insertion	Exon 14	p.*396L	NI	NI	1	[195]

List of ASAH1 mutations reported in the literature that result in FD. 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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ISSN: 1750-1172

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