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TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Ignacio Arroyo CarreraMiguel Fernández-BurrielPablo LapunzinaJair Antonio Tenorio CastañoVerónica Deyanira García NavasElena Márquez Isidro
Published in: Clinical genetics (2021)
Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett-like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syndrome, a rare pattern of multiple congenital anomalies, but others without dysmorphic findings or with non-specific ones, and also patients with only some of the features associated with Pierpont syndrome. We here present a case with a de novo novel missense variant in TBL1XR1 gene with overlapping features with Pierpont syndrome and autism, a neurobehavioral manifestation not previously reported in Pierpont syndrome. This patient expands the phenotypic spectrum of TBL1XR1 gene pathogenic variants.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • copy number
  • case report
  • genome wide
  • bipolar disorder
  • genome wide identification
  • transcription factor