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Tong, Huaiyu, Guo, Chongye, Liang, Liang, Mi, Hua, Li, Meng, Yin, Yiheng, Shang, Lijun, Mi, Shuangli and Yu, Xinguang (2021) A de novo Variant in CROCC identified in a Chinese family implies the potential association with Atlanto-occipital Fusion (AOF). In: Physiology 2021 annual conference, 12 - 16 July 2021, Online.
Poster presentation for the Physoc 2021 annual conference. Atlanto-occipital fusion (AOF) is a rare skeletal malformation causing nerve compression with high risk of fatal. Its genetic information is currently lacking. Through whole-exome sequencing (WES) on a Chinese family having a sporadic proband son of AOF but other healthy family members, we identified a novel variant (chr1: c.4702C>T: p.R1568C) in ciliary rootlet coiled-coil (CROCC). The variant had different genotypes between the proband and healthy family members but with high conservations of “damage” to protein structure based on MutationTaster and SIFT forecast. CROCC gene can be obtained in both healthy (n=220) and non-mutated AOF patient samples (n=68) but absented in five sporadic patients with the novel variant. Furthermore, abnormal of cilia was observed after editing the target sequence on CROCC using CRISPR-Cas9. These results suggested that AOF might be caused by the mutation of the variant c.4702C>T:p.R1568C in CROCC. With strong amino acid conservation and interaction regulation, the variant mutation could cause the signal disorder of skeletal development which may lead to the defective bone formation and finally cause the development of AOF.
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