CASE REPORT article
Front. Psychiatry
Sec. Autism
Volume 16 - 2025 | doi: 10.3389/fpsyt.2025.1532982
Case Report: An Adult with NCKAP1-Related Neurodevelopmental Disorder and Autism Spectrum Disorder
Provisionally accepted
- 1College of Human Medicine, Michigan State University, East Lansing, United States
- 2Medical Genetics, Corewell Health Helen DeVos Children's Hospital, Grand Rapids, United States
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We describe a 43-year-old man with neurodevelopmental disorder (NDD) with features of autism spectrum disorder (ASD) due to a rare pathogenic variant in the NCKAP1 gene. There are only 5 young adults described in the literature with NCKAP1-related NDD; there are currently no reports of middle-aged or elderly adults with the condition. The most common clinical characteristics include ASD, intellectual disability (ID), speech-language problems, repetitive behaviors, and seizures.This case report highlights an adult phenotype of NCKAP1-related NDD with goals to 1.) contribute insight into a rare genetic variant leading to NDD with ASD features and 2.) highlight adult manifestations of NCKAP1-related NDD as a patient in middle adulthood with the condition has not yet been reported.
Keywords: Nckap1, neurodevelopmental disorder, Autism Spectrum Disorder, Nonsense variant, case report
Received: 22 Nov 2024; Accepted: 16 May 2025.
Copyright: © 2025 Jain, VanSickle, Zitano, Moss and Schrader. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Aruna Jain, College of Human Medicine, Michigan State University, East Lansing, United States
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