In one sentence
Researchers describe two children with new HCFC1 gene variants who also had autism, ADHD, and structural brain malformations not previously reported with this gene — suggesting the condition may look broader than doctors once thought.
What the researchers did
Changes in the HCFC1 gene are already linked to several neurological conditions, including a metabolic disorder called cblX syndrome, intellectual disability, and some forms of epilepsy. Some earlier reports have loosely connected HCFC1 variants with schizophrenia or autism, but ADHD had not been clearly associated.
In this case series, researchers at one medical center described two children who had autism spectrum disorder and ADHD along with unusual brain structure on imaging. The team performed genetic testing and compared the children's features with what is already known about HCFC1-related conditions.
This is a small descriptive report, not a trial testing a treatment.
What they found
Both children carried novel HCFC1 variants. One variant was in a non-coding part of the gene, which may affect how the gene is regulated rather than the protein sequence itself.
Both children had autism and ADHD. The authors also report structural brain malformations that had not previously been described in people with HCFC1 variants, which they say may expand the range of features linked to this gene.
The clinical significance of these specific variants remains uncertain. The researchers did not prove that the gene changes directly caused the brain findings or the neuropsychiatric symptoms.
What this means for families and therapists
For most families, this report will not change day-to-day care. It is early case-level evidence from only two children.
If genetic testing has already found an HCFC1 variant of unknown significance, it may be worth asking a geneticist whether autism, ADHD, or brain imaging findings should be reviewed together.
For therapists, knowing that a child has a rare genetic variant linked to epilepsy or intellectual disability can help explain co-occurring support needs, but this paper alone does not establish a new diagnostic pathway.
Limitations and what we don't know yet
Only two children were described, so the findings may not apply more widely.
The full study text was not available for detailed review, and functional laboratory work to test how the variants affect the gene's function was not reported. Larger studies are needed before clinicians can treat HCFC1 variants as a routine explanation for autism or ADHD.
This is a simplified summary of Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion by Castro VL, Palomino CE, O'Shea J, Ames E, Frazier L, Pritchard A, Molecular genetics and metabolism reports (2026).
Source license: CC-BY-NC-ND.
This is not medical advice. Please consult a qualified healthcare professional before making treatment decisions.