Diagnostic Relevance of Intronic Variants
A novel SPINK5 donor splice site variant in a child with Netherton syndrome
Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing with the histology of patient samples, an unusual intronic variant was recently revealed to be clearly pathogenic by disrupting a splice donor motif. The findings were published in Molecular Genetics & Genomic Medicine.