1.
Chinese Journal of Medical Genetics
; (6): 1253-1256, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-879479
RESUMO
OBJECTIVE@#To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing.@*RESULTS@#The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function.@*CONCLUSION@#The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.