Table 1.

Summary of Molecular Genetic Testing Used in SYNE1-Related Autosomal Recessive Cerebellar Ataxia (ARCA1)

Gene SymbolTest MethodMutations DetectedMutation Detection Frequency 1
SYNE1Sequence analysis of coding region and exon/intron junctions Sequence variants 2 including those in a targeted mutation panel(s)~100% of variants in the regions sequenced
Targeted mutation analysis 3Mutations found in French Canadian population, p.Arg2906X, c.15705-12A>G, c.16177-2A>G, p.Asp5868Alafs*13 4100% of targeted mutations
Mutation scanning of select exonsExons 56, 71, 81, 84, 93, 118, 126 5Unknown
Deletion / duplication analysis 6Deletion/duplication of one or more exons or the whole gene 7Unknown; none reported to date

The ability of the test method used to detect a mutation that is present in the indicated gene


Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.


Targeted mutation analysis refers to testing for specific mutation(s). The panel of mutations may vary among testing laboratories.


Some laboratories may offer testing for the mutations found in the French Canadian population: p.Gln7640X, p.Gln7386X, and c.281100-281101delTG.


Exons analyzed may vary by laboratory.


Testing that identifies deletions/duplications not readily detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted chromosomal microarray analysis (gene/segment-specific) may be used. A full chromosomal microarray analysis that detects deletions/duplications across the genome may also include this gene/segment.


No deletions or duplications of SYNE1 have been reported to cause ARCA1. (Note: By definition, deletion/duplication analysis identifies rearrangements that are not identifiable by sequence analysis of genomic DNA.)

From: SYNE1-Related Autosomal Recessive Cerebellar Ataxia

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