Genetic analysis of a pedigree affected with congenital high myopia caused by a novel splice site variant of COL11A1 gene
10.3760/cma.j.issn.1003-9406.2019.09.010
- VernacularTitle: 一个COL11A1基因新剪接变异导致的先天性高度近视家系的遗传学分析
- Author:
Xiurong YU
1
;
Yichu LIU
1
;
Fenghua LAN
1
;
Qingqin LI
1
;
Ying TANG
1
;
Zhihong WANG
1
Author Information
1. Department of Experimental Medicine, Dongfang Hospital, Xiamen University Medical College, Fuzhou, Fujian 350025, China; Department of Experimental Medicine, Fuzong Clinical College of Fujian Medical University, Fuzhou, Fujian 350025, China
- Publication Type:Clinical Trail
- Keywords:
COL11A1 gene;
Splicing variation;
Congenital high myopia
- From:
Chinese Journal of Medical Genetics
2019;36(9):893-896
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze genetic variant in a pedigree affected with congenital high myopia.
Methods:Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis.
Results:WES has identified a novel splice site heterozygous variant (c.2556+ 1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+ 1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+ PM2).
Conclusion:A novel splice variant (c.2556+ 1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
