Display Settings:


Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2011 Nov;155A(11):2826-31. doi: 10.1002/ajmg.a.34255. Epub 2011 Sep 30.

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

Author information

  • 1Department of Clinical Genetics, Churchill Hospital, Oxford, UK. victoria.harrison@orh.nhs.uk


Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin. There has been one case in the literature of a patient with a heterozygous deletion in NRXN1 on one allele and a nonsense mutation on the other allele, reported to have a Pitt Hopkins-like phenotype. We report on two daughters of healthy, nonconsanguineous, Caucasian parents with biallelic NRXN1 deletions identified by array CGH. The children presented with severe early onset epilepsy, profound developmental delay, gastroesophageal reflux disease, constipation, and early onset puberty. Our report confirms that biallelic NRXN1 mutations result in a severe recessive mental retardation syndrome and broadens the range of phenotypes associated with this gene.

Copyright © 2011 Wiley-Periodicals, Inc.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for John Wiley & Sons, Inc.
    Loading ...
    Write to the Help Desk