Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.

BACKGROUND

Coats plus syndrome is a recently described, very rare multisystem disorder. The clinical phenotype is wide and variable, which making the diagnosis more difficulty. The genetic study of Coats plus syndrome has been reported recently. The biallelic heterozygous mutations in CTC1 gene, encoding conserved telomere maintenance component 1, were identified in families with Coats plus from different ancestry (European, American, and African). To data, there has not been a report about genetically confirmed Coats plus syndrome from China.

RESULTS

We firstly identify a novel biallelic heterozygous missense variants (c.775G>A p.V259M and c.2066A>G p.Y689C) of CTC1 gene in a Chinese family with Coats plus. The c.2066A>G mutation (p.Y689C) in CTC1 is a novel variant. Such variant was not found in any of the 85 healthy individuals in the same community.

CONCLUSION

This is the first report of a genetically confirmed case of Coats plus from China. Targeted sequencing of CTC1 gene is useful for genetic diagnosis in Coats plus and differential diagnosis for other patients with similar disease manifestations.