Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35091508
Free PMC article.
One variant was an initiator codon change (c.1A > T) that disrupted protein translation, consistent with the observation that most disease-causing variants are loss-of-function changes. The other variant was a coding change (c.846G > A) that was predicted to b …
One variant was an initiator codon change (c.1A > T) that disrupted protein translation, consistent with the observation that most …