Genetic analysis of a pedigree affected with congenital high myopia caused by a novel splice site variant of COL11A1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 893-896, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-776781
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Genetic Testing
/
Collagen Type XI
/
Exome Sequencing
/
Genetics
/
Heterozygote
/
Myopia
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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