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Xun Wang, Xing Liu, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo; Mutation survey of candidate genes in 22 Chinese patients with Axenfeld-Rieger syndrome. Invest. Ophthalmol. Vis. Sci. 2017;58(8):572.
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© ARVO (1962-2015); The Authors (2016-present)
Axenfeld-Rieger syndrome (ARS) is a multiple organ genetic disease and carries a high risk of glaucoma. Its mutation spectrum of candidate genes in Chinese patients remains unknown. We performed a basic study to identify the spectrum and frequency of PITX2, FOXC1 and PRDM5 genes in Chinese patients with ARS.
A total of 22 unrelated Chinese probands with ARS were recruited, including three with a family history of an autosomal dominant pattern and 19 sporadic cases, 12 males and 10 females. All patients underwent full ocular and systemic examinations. Sanger sequencing was used to analyze all coding and adjacent regions of the PITX2, FOXC1 and PRDM5 genes. Segregation and bioinformatics analysis were performed to evaluate the pathogenicity of the variants. All variations detected in the patients were further evaluated by sequencing 96 unrelated healthy individuals as a control.
Eleven mutations in PITX2 were identified in 11 of 22 probands, including nine novel (c.47-1G>A, c.64C>T, c.90delC, c.108delG, c.211G>T, c.251G>C, c.272G>A, c.475_476delCT, c.484C>T) mutations and two known mutations (c.253-11A>G, c.356delA). Of the 11 mutations, seven were nonsense mutations, two were splicing mutations and the other two were missense mutations. Putative pathogenic mutations of the FOXC1 and PRDM5 genes were absent in this cohort of patients.
In this study, nine novel and two known mutations in the PITX2 gene were identified in 11 of 22 Chinese patients with ARS. The results expand the mutation spectrum of the PITX2 gene. It also suggested that PITX2 mutations may be the major cause of Chinese patients with ARS and analysis of the mutation type showed that the nonsense mutation may be a main mutation type of PITX2 in Chinese patients.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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