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  4. A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia

A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia

Authors

Mohamed Sarar
El Kholy, Suzan
Al Juryyan, Nasir
Al Nemri, Abdulrahman M.
Abu Amero, Khaled K.
King Saud University ; , College of Medicine ; , Department of Pediatrics ;

J. High Inst. Public Health. 2015; 36 (1): 113-116
Saudi Medical Journal
Journal Country: Saudi Arabia
P-ISSN: 0379-5284
E-ISSN: 1658-3175
Type of Publication: Journal Article
Category: Humans,
Country of Research: Saudi Arabia WHO Eastern Mediterranean Region
Type of Research: Clinical
Keywords: Adrenal Hyperplasia, Congenital / Genetics
Broad Subjects: Noncommunicable Diseases, Molecular Biology ,Steroid 21-Hydroxylase ,Mutation
Citation: Sarar Mohamed ,Suzan El Kholy ,Nasir Al Juryyan ,Abdulrahman M. Al Nemri ,Khaled K. Abu Amero , A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia, J. High Inst. Public Health. 2015; 36 (1): 113-116

Abstract English

The aim of this study is to determine congenital adrenal hyperplasia [CAH] with the pattern of CYP21A2 gene-mutations in Saudi children. 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. 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. Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH

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