A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

F. R. Zahir, A. Baross, A. D. Delaney, P. Eydoux, N. D. Fernandes, T. Pugh, M. A. Marra, J. M. Friedman

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Abstract

The authors report a patient with mild mental retardation, autistic features, multiple vertebral malformations, and an unusual facial appearance who carries a de novo submicroscopic deletion of chromosome 2p16.3. The patient's deletion is ∼320 kb in size and includes only the part of the NRXN1 gene that codes for the neurexin1α promoter and initial coding exons. The more downstream neurexin1β promoter and the region surrounding it are intact. Neurexin1β has been associated with autism in several recent studies, but this is the first reported patient with loss of only neurexin1α and not of neurexin1β. These findings suggest that neurexin1α function in correct dosage is necessary for normal neurological development.

Original languageEnglish
Pages (from-to)239-243
Number of pages5
JournalJournal of medical genetics
Volume45
Issue number4
DOIs
Publication statusPublished - 1 Apr 2008

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Zahir, F. R., Baross, A., Delaney, A. D., Eydoux, P., Fernandes, N. D., Pugh, T., Marra, M. A., & Friedman, J. M. (2008). A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α. Journal of medical genetics, 45(4), 239-243. https://doi.org/10.1136/jmg.2007.054437