A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 268-271, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-687962
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic basis for a patient with oculodentodigital dysplasia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.</p><p><b>RESULTS</b>A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.</p><p><b>CONCLUSION</b>The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tooth Abnormalities
/
Foot Deformities, Congenital
/
Eye Abnormalities
/
Sequence Analysis, DNA
/
Connexin 43
/
Syndactyly
/
Craniofacial Abnormalities
/
Exome
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article
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