AI Article Synopsis
- The study aimed to investigate the genetic cause of a child presenting with facial dysmorphism, single palmar crease, motor and language delays, and a smaller corpus callosum.
- Researchers collected blood samples from the child and parents for whole exome sequencing (WES) to identify genetic variants.
- They discovered a pathogenic variant (c.607delT) in the TCF4 gene that is likely responsible for Pitt-Hopkins syndrome, confirming the child's diagnosis through genetic testing.
Article Abstract
Objective: To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum.
Methods: A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
Results: WES revealed that the child has harbored a heterozygous c.607delT (p.S203Pfs*31) variant in exon 9 of the TCF4 gene, for which both of his parents were of the wild-type. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6).
Conclusion: The heterozygous c.607delT (p.S203Pfs*31) variant of the TCF4 gene probably underlay the Pitt-Hopkins syndrome in this child. Genetic testing has enabled the definite diagnosis.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20220425-00278 | DOI Listing |
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