The gender-sensitive spectrum of neurodevelopmental disorders: a case report on a ZMYM3 variant in a 19-year-old female
This case contributes to the limited literature on <i>ZMYM3</i>-related NDDs in females, highlighting potential variability in phenotypic expression due to X-inactivation and penetrance effects. The patient's symptoms emphasize how ADHD and other neurodevelopmental traits may manifest differently in females, often with more subtle and internalized features. Our findings underscore the importance of sex-specific research on <i>ZMYM3</i>-associated disorders and the need for comprehensive genetic and neuropsychological assessments to guide diagnosis and intervention in affected individuals.
Authors
- Silvia Maitz (ORCID: https://orcid.org/0000-0003-0637-5033)
- Lucia Morellini (ORCID: https://orcid.org/0000-0002-0733-8122)
- Leonardo Sacco (ORCID: https://orcid.org/0000-0002-9494-7742)
- Daniela Distefano (ORCID: https://orcid.org/0000-0002-7591-1314)
- Marianna Lissi
- Alberto Cordella
Institutions
- Laboratory for Biomedical Neurosciences (CH)
- Ospedale regionale di Lugano (CH)
- Ente Ospedaliero Cantonale (CH)
- Università della Svizzera italiana (CH)
Publication Details
- Journal
- Frontiers in Psychiatry
- Published
- 2025-08-15
- DOI
- https://doi.org/10.3389/fpsyt.2025.1604523
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.63