Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1253-1256, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-879479
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Genetic Testing
/
Facies
/
Transcription Factor 4
/
Hyperventilation
/
Intellectual Disability
Type of study:
Prognostic study
Limits:
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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