Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

A Mutation in the Nuclear Pore Complex Gene Tmem48 Causes Gametogenesis Defects in Skeletal Fusions with Sterility (sks) Mice

“…Besides the possible amino acid substitution, however, some nucleotide substitutions in exons are known to impair normal splicing, and genetic defects caused by aberrant splicing via nucleotide substitutions in exons have also been reported (13,14). For example, a G to A missense mutation in exon 5 of the PMM2 gene, which is associated with carbohydratedeficient glycoprotein syndrome type Ia, causes a deletion of exon 5 in the transcripts of the gene (15). In these exon-skipping mutations, the nucleotide substitutions disrupt putative ESEs.…”

Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects

“…[35][36][37] Hence, it cannot conclusively be ruled out that the translationally silent C to G transition in codon 433 impairs the function of SREBP-2.…”

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

“…Frontotemporal dementia linked to chromosome 17 missense mutation affects splicing of tau gene exon 10 by acting on an ESE 29. Carbohydrate deficient glycoprotein syndrome is associated with a missense mutation that disrupts a splicing enhancer sequence, resulting in exon 5 skipping 30. Splicing difference between the two forms of spinal muscular atrophy, SMN1 and SMN2, is attributed to a silent mutation in an ESE located in the centre of SMN exon 7 31.…”