Abstract

NRXN1-related disorders are uncommonly reported. The clinical features of the disorders are wide and heterogeneous mainly consisting of undistinctive facial dysmorphism, mild to severe intellectual and speech delay, epileptic seizures, and motor dysfunction. Defects in NRXN1 gene have been identified in cases diagnosed as Pitt-Hopkins-like-syndrome 2 (PTHLS2; OMIM#614325). Literature review of NRXN1-related disorders was conducted and main clinical features of individuals affected by these disorders were analyzed. In addition, clinical features of individuals labelled with PTHSL2 diagnosis were reported. A comparison between international consensus diagnostic criteria for Pitt-Hopkins syndrome (PTHS) and twins presenting with NRXN1-related disorder and followed by this institution were also presented. Our data confirmed that NRXN1-related disorders mainly manifest with undistinctive dysmorphic features and neurological involvement consisting of more or less severe developmental delay/intellectual disability, autistic spectrum disorder, and epilepsy. Relationship between PTHSL2 and NRXN1 remains to be established. Our present analysis denoted a heterogeneous and unspecific clinical framework of the NRXN1-related disorders mainly affecting the nervous system for which the clinical diagnosis remains inconclusive without the support of genetic analysis. Further contributions are necessary to better clarify the clinical assessment of PTHSL2.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.