NLGN4X

(redirected from NLGN4)

NLGN4X

A gene on chromosome Xp22.33 that encodes neuroligin 4, a putative neuronal cell surface protein involved in cell–cell interactions.
 
Molecular pathology
Defects of NLGN4X have been linked to an increased susceptibility to Asperger syndrome (X-linked type 2) and to autism (X-linked type 2).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Butler, "Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism," Journal of medical genetics, vol.
Betancur et al., "Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism," Nature Genetics, vol.
Gomot et al., "X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family," The American Journal of Human Genetics, vol.
Picker, "Familial deletion within NLGN4 associated with autism and Tourette syndrome," European Journal of Human Genetics, vol.
While patients with mutations involving solely the STS gene or the recurrent ~2Mb deletion can present with attention-deficit hyperactivity disorder (ADHD), those with larger deletions including neighboring genes such as neuroligin 4 (NLGN4) may present with autism in addition to ADHD [2, 3].
We present a case of XLI with ADHD and mild autism due to a recurrent ~2 Mb deletion which spared the NLGN4 gene.
Patients with mutations involving only the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions (involving not only STS or genes in the recurrent ~2 Mb deletion but also other neighboring genes such as NLGN4) may present with ADHD and/or autism [2, 3].
Five had fulfilled criteria for an autistic spectrum disorder or related language/communication disorders, and all of them had unusually large deletions of the STS gene with loss of the NLGN4 gene.
In our patient, however, the recurrent ~2Mb deletion (including STS, PUDP, MIR4767, VCX, PNPLA4, and MIR651 but sparing NLGN4) was sufficient to cause both mild autism and ADHD.
Mutations of the x-linked genes encoding neurologins NLGN3 and NLGN4 are associated with autism.
So extending the assumption of X chromosome evolution from autosome we can assume that paralog of X-linked genes must be on autosome and should be involved in the same disorder; like ARHGEF6 (X chromosome) has its paralog ARHGEF3 and ARHGEF4 on autosome; similarly NLGN3, NLGN4 on X -chromosome has paralog NLGN1 and NLGN2 on autosome.
Paris Autism Research International Sibpair Study: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.