ZNF44 – Intellectual Disability

This summary evaluates the association of ZNF44 (HGNC:13110) with intellectual disability (MONDO_0001071). Evidence from case reports and multi-patient studies indicates that a 0.9 Mb deletion at 19p13.2, which includes ZNF44, was detected in a single family where two siblings and their mother presented with mild intellectual disability, short stature, obesity, and seizures (PMID:23686817). The deletion was identified in array comparative genomic hybridization (CGH) studies and is posited to modify the epileptic phenotype observed in these patients, while the deletion at 16p11.2 is likely primarily responsible for other aspects of the phenotype. Overall, the clinical and genetic evidence currently remains limited because it is based on a single study with a small number of affected individuals (PMID:23686817).

No dedicated functional assessment studies have yet been reported specifically evaluating ZNF44 in association with intellectual disability. The absence of experimental data precludes a higher confidence level, and it remains unclear whether loss of function or a dominant‐negative mechanism underlies the contribution of ZNF44 to the disease phenotype. Nevertheless, the recurrence of this deletion in affected individuals underscores the potential clinical utility of considering ZNF44 during diagnostic evaluations for intellectual disability. Further studies are needed to robustly delineate the genetic and mechanistic contribution of ZNF44 to this neurodevelopmental disorder.

References

• American journal of medical genetics. Part A • 2013 • Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy PMID:23686817

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