A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of with Longitudinal Follow-Up and Future Prospectives.

Malan syndrome is a rare overgrowth syndrome resulting from haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions of on chromosome 19 at p13.2. Phenotypic presentation can vary but is characterized by macrocephaly, long and slender body habitus, skeletal abnormalities, and intellectual disability.

Induced alternative splicing an opportunity to study PCSK9 protein isoforms at physiologically relevant concentrations.

Splice modulating antisense oligomers (AOs) are increasingly used to modulate RNA processing. While most are investigated for their use as therapeutics, AOs can also be used for basic research. This study examined their use to investigate internally and terminally truncated proprotein convertase subtilisin/kexin type 9 (PCSK9) protein isoforms.

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.

Marfan syndrome is one of the most common dominantly inherited connective tissue disorders, affecting 2-3 in 10,000 individuals, and is caused by one of over 2800 unique mutations. Mutations in result in reduced fibrillin-1 expression, or the production of two different fibrillin-1 monomers unable to interact to form functional microfibrils. Here, we describe in vitro evaluation of antisense oligonucleotides designed to mediate exclusion of exon 52 during pre-mRNA splicing to restore monomer homology.