Parents

Variants in the INTS1 gene are rare. To date, 10 patients have been reported in the medical literature. Frequent findings in affected individuals have included delays in development and birth defects. Patients have had delayed speech and low muscle tone and imaging of the brain has shown abnormalities of several structures. Eye findings have included early onset of lens opacities, or cataracts. Patients have had a different appearance to other family members. A depressed chest bone and minor toe findings are also common.

Affected people have had two INTS1 variants inherited as one from each parent and a clear correlation between the variants and clinical findings has not been noted so far. The INTS1 gene encodes the largest subunit of the integrator complex, a part of the cell machinery, and the variants are thought to prevent normal function of this complex, although how they cause the medical problems is not well understood.