COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient

Figure 1

Biallelic variants identified in a Chinese patient and their effects on RNA stability/splicing: (a) pedigree of this family; (b) mRNA region involving paternal variant c.1672C>T (exons 15-18, NM_020751.3) was amplified using primers pF1 and pR1. E: exon; L: DNA ladder; F: father; M: mother; P: patient; (c) mRNA region involving maternal variant c.153+392A>G (exons 1-intron1-exon 2-exon3) was amplified using primers mF1 and mR1. PCR products underwent 1% agarose gel electrophoresis. Splicing pattern and sequences at splicing boundary are shown on right. I: intron; (d) statistics of mRNA splicing pattern using data from 20 TA clones. Numbers indicated clones matched with indicated splicing: NM_020751.3, blue line; NR_026745.1, grey line; MUT1, red line; MUT2, orange line; (e) predicted results of two aberrant splicing products MUT1 and MUT2. Both result in frameshift and a premature stop codon, thus predicted to produce a truncated protein with 61 amino acids.

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