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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteochondrodysplasias
/
Pedigree
/
Collagen Type II
/
Asian People
/
Genetics
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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