Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 694-696, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771937
ABSTRACT
OBJECTIVE@#To explore the molecular basis for a pedigree affected with spondyloepiphyseal dysplasia congenita (SEDC).@*METHODS@#The proband was subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing.@*RESULTS@#All patients from the pedigree were found to carry a novel missense variant c.1394G>C (p.Gly465Ala) of the COL2A1 gene. The variant was not reported previously. Provean, Polyphen-2 and Mutation Taster software predicted that the variant is highly likely to be pathogenic.@*CONCLUSION@#The c.1394G>C (p.Gly465Ala) variant of the COL2A1 gene probably underlies the SEDC in this pedigree.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Linhagem
/
Colágeno Tipo II
/
Povo Asiático
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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