A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Risultato della ricerca: Articlepeer review

Abstract

Background: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation: We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of both PCDH11Y and NLGN4Y located in the Y chromosome in the same patient. Conclusions: We hypothesized a functional complementary role of PCDH11Y and NLGN4Y within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of PCDH11Y that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission NLGN4Y-linked.
Lingua originaleEnglish
pagine (da-a)98-
Numero di pagine5
RivistaBMC Medical Genomics
Volume14
Stato di pubblicazionePublished - 2021

All Science Journal Classification (ASJC) codes

  • ???subjectarea.asjc.1300.1311???
  • ???subjectarea.asjc.2700.2716???

Fingerprint

Entra nei temi di ricerca di 'A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes'. Insieme formano una fingerprint unica.

Cita questo