A de novo nonsense variant in the NFIA gene was identified in an ASD proband from the Simons Simplex Collection in PMID 22542183. PMID 25961944 identified a de novo missense variant in another ASD proband from the Simons Simplex Collection; no de novo SNVs in this gene were observed in unaffected SSC siblings (P=0.02). A rare deletion in the NFIA gene has been identified with intellectual disability and bipolar disorder (PMID 22031302).
Molecular Function
This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. This protein recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability
