[Genetic analysis of a pedigree affected with congenital high myopia caused by a novel splice site variant of COL11A1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(9): 893-896, 2019 Sep 10.
Article
en Zh
| MEDLINE
| ID: mdl-31515784
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Colágeno Tipo XI
/
Miopía
Límite:
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
China