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. 2020 Feb 27;11:168. doi: 10.3389/fgene.2020.00168

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Copyright © 2020 Wang, Han, Wang, Wang, Li, Jin and Wang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The results of genetic sequencing. Two mutations were identified in COG5, (A) c.1290C > A (p.Y430X) and (B) c.2077A > C (p.T693P). (C,D) The father of the proband carried mutation c.1290C > A (p.Y430X), and her mother carried c.2077A > C (p.T693P). The compound-heterozygous mutations in the proband were inherited from her parents. (E) Thr693 is highly conserved across species and located in a highly conserved region. (F) Expression levels of COG5 (93 kDa), small band (around 45 kDa) and GAPDH (Reference, 35 kDa) were shown by western blotting. (G) Quantification of the protein levels. The expression level of COG5 proteins was lower in the patient compared with control. A unknown small band appeared in the patient’s sample but control.