ZNF12 and Autism

In this report, ZNF12 is evaluated for its association with autism in the context of a 7p22.1 microduplication syndrome. The 1.3 Mb interstitial duplication, detected in a 29‐month‐old male via whole genome microarray, spans 14 OMIM‐annotated genes including ZNF12 (PMID:25893121). The patient presented with clinical features characteristic of autism such as delayed speech and language development, reduced eye contact, and additional dysmorphic features including brachycephaly, cryptorchidism, and protruding ears. Although more than 60 cases of 7p22 duplications have been reported, over 16 of which occur in isolation, the evidence does not allow for the attribution of the phenotype to a single gene within the duplicated region. Consequently, the specific contribution of ZNF12 to autism remains ambiguous.

Genetic evidence supporting an association between ZNF12 and autism is limited due to the lack of gene‐specific variant data and segregation studies from extended families. Similarly, functional assessments have not yet provided direct experimental data implicating ZNF12 in the pathophysiology of autism. These limitations underscore the need for further targeted studies to clarify the gene’s independent role. Ultimately, while the reported microduplication provides a potential link to autism, additional evidence is required to support its clinical utility for diagnostic decision‑making.

References

• Case reports in genetics • 2015 • Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism PMID:25893121

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