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Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.

Atefeh MirYongjun SongHane LeeZakiye NadealiFahimeh AkbarianMohammad Amin Tabatabaiefar
Published in: Laboratory medicine (2023)
The current study findings expand the existing knowledge of variants in SYNGAP1 that have been previously associated with nonsyndromic intellectual disability and autism, extending the spectrum of phenotypes associated with this gene. The data have implications for genetic diagnosis and counseling in similar phenotypic presentations.
Keyphrases
  • intellectual disability
  • copy number
  • autism spectrum disorder
  • genome wide
  • healthcare
  • dna methylation
  • genome wide identification
  • electronic health record
  • gene expression
  • smoking cessation
  • transcription factor