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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Pruebas Genéticas
/
Colágeno Tipo XI
/
Secuenciación del Exoma
/
Genética
/
Heterocigoto
/
Miopía
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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