PT  - JOURNAL ARTICLE
AU  - Mohamed, Sarar
AU  - El-Kholy, Suzan
AU  - Al-Juryyan, Nasir
AU  - Al-Nemri, Abdulrahman M.
AU  - Abu-Amero, Khaled K.
TI  - A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia
AID  - 10.15537/smj.2015.1.9697
DP  - 2015 Jan 01
TA  - Saudi Medical Journal
PG  - 113--116
VI  - 36
IP  - 1
4099  - http://smj.org.sa/content/36/1/113.short
4100  - http://smj.org.sa/content/36/1/113.full
SO  - Saudi Med J2015 Jan 01; 36
AB  - 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.