Table 1.

Summary of Molecular Genetic Testing Used in Multiminicore Disease

Gene 1Proportion of MmD Attributed to Mutation of This GeneTest MethodVariants Detected 2
SELENON (SEPN1)30%-54% 3Sequence analysis 4Sequence variants
UnknownDeletion/duplication analysis 5Unknown; none reported 6
RYR1UnknownSequence analysis 4Sequence variants
UnknownSequence analysis of select exons 4, 7Sequence variants in select exons
UnknownDeletion/duplication analysis 5Unknown; none reported 5

See Molecular Genetics for information on allelic variants.


Autosomal recessive SELENON pathogenic variants account for approximately 30% of all MmD and approximately 50% of classic MmD [Ferreiro et al 2002b]. An estimated 40% of individuals with SELENON pathogenic variants are compound heterozygotes.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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.


Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


No deletions or duplications involving SELENON or RYR1 have been reported to cause multiminicore disease.


Exons sequenced may vary by laboratory.

From: Multiminicore Disease

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