Identification of novel gene mutations that cause rare neurodegenerative and neuromuscular diseases

After more than 4 years of research, Professor Edwin Chan and his colleagues identified a novel genetic mutation that leads to spinocerebellar ataxia (SCA). By means of next generation sequencing, the team first tracked down candidate disease-causing polymorphisms in the patients’ genomes. With concerted experimental and bioinformatic effort, the researchers finally confined the SCA mutation to the coiled-coil domain containing 88C (CCDC88C) gene. Carriers of this gene mutation will develop SCA40.

This newly discovered form of SCA has been recognized as ‘SCA40’ by the Human Genome Organization Gene Nomenclature Committee and their accomplishment was published in the prestigious Journal of Medical Genetics. This further leads to identification of additional mutation in the same gene from Poland.

Identification of the novel gene mutation tremendously expanded academic understanding on the underlying causes of SCA and opened up opportunities for scientists to provide genetic testing and counselling services to patients. It has also shed light on the potential cure of SCA. 

Main publications:

Yu, A.C., Yim, A.K., Chan, A.Y., Yuen, L.Y., Au, W.C., Cheng, T.H., Lin, X., Li, J.W., Chan, L.W., Mok, V.C., Chan, T.F.* and Chan, H.Y.E.*(2019) A targeted gene panel that covers coding, noncoding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases. Front. Neurosci. 13:1324.

Tsoi, H., Yu, A.C., Chen, Z.S., Ng, N.K., Chan, A.Y., Yuen, L.Y., Abrigo, J.M., Tsang, S.Y., Tsui, S.K., Tong, T.M., Lo, I.F., Lam, S.T., Mok, V.C, Wong, L.K., Ngo, C.K., Lau, K.F., Chan, T.F.* and Chan, H.Y.E.* (2014) A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J. Med. Genet. 51, 590-595.

Lenska-Mieciek, M., Charzewska, A., Krolicki, L., Hoffman-Zacharska, D., Chen, Z.S., Lau, K.F., Chan, H.Y.E., Gambin, T. and Fiszer, U. (2019) Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene. Mov. Disord. 34, 142-144.

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