Phf8 gene mutation screening for rs121918522 in clinically identified children with siderius xlid

Introduction: X-linked intellectual disability, Siderius type is caused by mutations in the PHF8. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. Most PHF8 mutations lead to an abnormally short protein that gets transportedout of the cell's nucleus. The present study screened Arg211Ter (rs121918522) nonsense mutation of PHF8 in intellectually disabled children with cleft lip/ palate.
Materials and Methods: The selected mutation was a previously studied on patients with intellectual disability. Clinical features of the affected children was recorded. The primer sequence was designed and validated by PCR amplification successfully, followed by Sanger sequencing the mutation identification was carried out in two selected patients.
Results: In the current study, no alteration was found in two selected patients. Thus, confirmed that both children not harboring non-sense variant NM_001184897.1:c.631C>T (Arg211Ter) though they have showed exact feature of siderius type of intellectual disability.
Conclusion: The clinical representation of both children specifically described siderious XLID but selected mutation not present, the authors can be justified that another genomic mutation/s might be a cause of this clinical condition.