A de novo Variant in CROCC identified in a Chinese family implies the potential association with Atlanto-occipital Fusion (AOF)

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: 2021 Physiological Society Conference, 12-16 July 2021, UK ONLINE. (Unpublished)

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Abstract / Description

Atlanto-occipital fusion (AOF), also known as “occipitalization of the atlas” or “atlas assimilation”, is one of the caniovertebral junction (CVJ) disease characterized with fusion of the atlas and the base of the occipital bone. Due to its rare incidence, asymptomatic onset and the limited techniques available, there are very few studies on AOF.

Although sequencing technique has been successfully applied in studying small sample size of many CVJ diseases, for instance, a homozygous mutation on gene MEOX1 was detected and proved to be one of the pathological mutations for type II Klippel-Feil syndrome using the wholeexome sequencing (WES) technique, there is not such a study on AOF so far.

Item Type: Conference or Workshop Item (Poster)
Subjects: 500 Natural Sciences and Mathematics > 570 Life sciences; biology
Department: School of Human Sciences
Depositing User: Lijun Shang
Date Deposited: 31 Aug 2021 10:25
Last Modified: 31 Aug 2021 10:56
URI: http://repository.londonmet.ac.uk/id/eprint/6942

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