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
,
2
;
Yichu LIU
1
,
2
;
Fenghua LAN
1
,
2
;
Qingqin LI
1
,
2
;
Ying TANG
1
,
2
;
Zhihong WANG
1
,
2
Author Information
1. Department of Experimental Medicine, Dongfang Hospital, Xiamen University Medical College, Fuzhou, Fujian 350025, China
2. 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.
