Table 1.

Molecular Genetic Testing Used in ASAH1-Related Disorders

Gene 1MethodProportion of Probands by Phenotype with Pathogenic Variants 2 Detectable by Method
Farber diseaseSMA-PME
ASAH1 Sequence analysis 335/3612/13
Gene-targeted deletion/duplication analysis 41/36 51/13 6
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

5.

One proband was a compound heterozygote for an intronic pathogenic variant (c.917+4A>G) and a deletion of exons 3-5 [Alves et al 2013] (see Molecular Genetics, Pathogenic variants).

6.

One proband was a compound heterozygote for the recurrent pathogenic variant (c.125C>T) and a whole-gene deletion [Zhou et al 2012] (see Molecular Genetics, Pathogenic variants).

From: ASAH1-Related Disorders

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