Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 749-752, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-888386
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese patient featuring cleidocranial dysplasia(CCD).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and his parents. Whole exome sequencing (WES) was carried out for the patient, and suspected variant was verified by Sanger sequencing.@*RESULTS@#WES has identified a missense c.460G>T (p.Val154Phe) (GRCh37/hg19) variant of the RUNX2 gene. The variant was located in the Runt domain, a highly conserved region (PM1); it was not present in either the Genome Aggregation Database or the 1000 Genomes Project (PM2), and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3); the clinical phenotype of the patient was highly consistent with that of cleidocranial dysplasia (PP4). Furthermore, the variant was unreported in medical literature and was absent in both parents (PS2). Based on the American College of Medical Genetics and Genomics guidelines, the c.460 G>T variant of RUNX2 gene was predicted to be pathogenic (PS2+PM1+PM2+PP3+PP4).@*CONCLUSION@#The c.460G>T (p.Val154Phe) variant of the RUNX2 gene probably underlay the clinical phenotype in the patient. Above finding has enabled accurate diagnosis and expanded the spectrum of RUNX2 variants.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
China
/
Cleidocranial Dysplasia
/
Core Binding Factor Alpha 1 Subunit
/
Exome Sequencing
/
Mutation
Type of study:
Practice guideline
/
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS