Abstract

Background: X-linked intellectual disability (XLID) is a notably heterogeneous condition and often poses a diagnostic challenge; it is more common in males than females, indicating a role of defects on the X chromosome. The oligophrenin-1 (OPHN1) gene on Xq12 is one of the genes responsible for a syndromic form of XLID characterized by specific brain anomalies and distinctive facial features.
Methods: We report a boy with developmental delay, convergent strabismus, severe hypermetropia, seizures, facial dysmorphisms and cerebellar vermis hypoplasia.
Results: A novel intragenic deletion in the OPHN1 gene was found.
Conclusion: The report underlines the clinical and neuroradiological features associated with OPHN1 mutations, confirming that alterations in this gene are responsible for a significant proportion of patients with syndromic XLID with brain anomalies. Thus, we suggest that brain MRI examinations should be performed on all individuals with XLID with hypotonia, motor delays and severe strabismus.