title: A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
abstract: OBJECTIVE
  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&gt;G (IVS2-13C&gt;G) in another 4, and a common deletion, involving exons 6 and 8 in 3 patients.
  
  
  CONCLUSIONS
  Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH.
authors: Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. Fax. +966 (11) 4672439. E-mail. sararmohamed@hotmail.com.
authors: Sarar
authors: S
authors: Mohamed
authors: Suzan
authors: S
authors: El-Kholy
authors: Nasir
authors: N
authors: Al-Juryyan
authors: Abdulrahman M
authors: AM
authors: Al-Nemri
authors: Khaled K
authors: KK
authors: Abu-Amero
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012529:Saudi Arabia; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase
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