Insights of Non-canonical Splice-site Variants on RNA Splicing in Patients with Congenital Hypothyroidism.

Najla AlbaderMinjing ZouHuda A BinEssaSaba AbdiAnwar F Al-EneziBrian F MeyerAli S AlzahraniYufei Shi

Published in: The Journal of clinical endocrinology and metabolism (2021)

Two novel deep intron mutations have been identified in SLC26A4 and SLC5A5, bringing the total number of solved families with disease-causing mutations to ~45% in our cohort. Approximately 46% (13/28) reported non-canonical splice-site mutations do not disrupt pre-mRNA splicing. CADD provides highest prediction accuracy of non-canonical splice-site variants.

Keyphrases

copy number
gene expression
dna methylation
replacement therapy
binding protein