@article {Mohamed113, author = {Sarar Mohamed and Suzan El-Kholy and Nasir Al-Juryyan and Abdulrahman M. Al-Nemri and Khaled K. Abu-Amero}, title = {A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia}, volume = {36}, number = {1}, pages = {113--116}, year = {2015}, doi = {10.15537/smj.2015.1.9697}, publisher = {Saudi Medical Journal}, abstract = {Objectives: The aim of this study is to determine congenital adrenal hyperplasia (CAH) with the pattern of CYP21A2 gene-mutations in Saudi children.Methods: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full coding regions of the CYP21A2 gene and screened the gene for deletion(s)/duplication(s) using the multiplex ligation-dependent probe amplification (MLPA) technique.Results: Nine patients had classic CAH and presented with ambiguous genitalia and/or salt losing crisis. Two patients had the non-classic form of CAH and presented with precocious puberty. The remaining 2 subjects were asymptomatic. Screening the CYP21A2 gene, we detected p.Gln318X mutation in 4 patients, c.290 -13 C\>G (IVS2-13C\>G) in another 4, and a common deletion, involving exons 6 and 8 in 3 patients.Conclusion: Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH.}, issn = {0379-5284}, URL = {https://smj.org.sa/content/36/1/113}, eprint = {https://smj.org.sa/content/36/1/113.full.pdf}, journal = {Saudi Medical Journal} }