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Autism and duplication of 17q12q21.2 by array-CGH: a case report.

Alana WeingartnerNaiara Bozza PegoraroRie Tiba MaglioniIsabelle Caroline Fasolo Normandia MoreiraGabriela Esmanhoto RodriguesAna Clara KunzCaroline Brandão PiaiAline Sauzem MilanoSalmo RaskinLilian Pereira FerrariLiya Regina Mikami
Published in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2023)
Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.
Keyphrases
  • transcription factor
  • mental health
  • high resolution
  • copy number
  • autism spectrum disorder
  • functional connectivity
  • high throughput
  • spinal cord injury
  • genome wide
  • brain injury