A recurrent de novo heterozygous missense variant in the NACC1 gene (c.892C>T;p.Arg298Trp) was osberved in seven individuals presenting with a neurodevelopmental disorder characterized by microcephaly, profound developmental delay and/or intellectual disability, cataracts, epilepsy, irritability, failure to thrive, and stereotypic hand movements (Schoch et al., 2017). De novo mutations in NACC1 had previously been observed in Gilissen et al., 2014 (a de novo missense variant in a patient originally described in de Ligt et al., 2012 that presented with developmental delay, intellectual disability, autistic features, and schizoaffective disorder) and in Iossifov et al., 2014 (a de novo splice-site variant in an ASD proband from the Simons Simplex Collection).
Molecular Function
This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
