Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions

Christian P. Schaaf, Philip M. Boone, Srirangan Sampath, Charles Williams, Patricia I. Bader, Jennifer M. Mueller, Oleg A. Shchelochkov, Chester W. Brown, Heather P. Crawford, James A. Phalen, Nicole R. Tartaglia, Patricia Evans, William M. Campbell, Anne Chun-Hui Tsai, Lea Parsley, Stephanie W. Grayson, Angela Scheuerle, Carol D. Luzzi, Sandra K. Thomas, Patricia A. EngSung Hae L. Kang, Ankita Patel, Pawel Stankiewicz, Sau W. Cheung

Research output: Contribution to journalArticlepeer-review

94 Scopus citations


Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had intragenic deletions of NRXN1. Seventeen of these deletions involved exons of NRXN1, whereas seven deleted intronic sequences only. The patients with exonic deletions manifested developmental delay/intellectual disability (93%), infantile hypotonia (59%) and ASDs (56%). Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. The more C-terminal deletions, including those affecting the β isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1.

Original languageEnglish (US)
Pages (from-to)1240-1247
Number of pages8
JournalEuropean Journal of Human Genetics
Issue number12
StatePublished - Dec 2012
Externally publishedYes


  • epilepsy
  • genotype-phenotype correlation
  • intellectual disability
  • macrocephaly
  • neurexin 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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