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

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 a...

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Autores principales: Mohamed, Sarar, El-Kholy, Suzan, Al-Juryyan, Nasir, Al-Nemri, Abdulrahman M., Abu-Amero, Khaled K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362195/
https://www.ncbi.nlm.nih.gov/pubmed/25630015
http://dx.doi.org/10.15537/smj.2015.1.9697
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author Mohamed, Sarar
El-Kholy, Suzan
Al-Juryyan, Nasir
Al-Nemri, Abdulrahman M.
Abu-Amero, Khaled K.
author_facet Mohamed, Sarar
El-Kholy, Suzan
Al-Juryyan, Nasir
Al-Nemri, Abdulrahman M.
Abu-Amero, Khaled K.
author_sort Mohamed, Sarar
collection PubMed
description 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.
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spelling pubmed-43621952015-03-19 A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia Mohamed, Sarar El-Kholy, Suzan Al-Juryyan, Nasir Al-Nemri, Abdulrahman M. Abu-Amero, Khaled K. Saudi Med J Brief Communication 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. Saudi Medical Journal 2015 /pmc/articles/PMC4362195/ /pubmed/25630015 http://dx.doi.org/10.15537/smj.2015.1.9697 Text en Copyright: © Saudi Medical Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Mohamed, Sarar
El-Kholy, Suzan
Al-Juryyan, Nasir
Al-Nemri, Abdulrahman M.
Abu-Amero, Khaled K.
A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
title A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
title_full A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
title_fullStr A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
title_full_unstemmed A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
title_short A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
title_sort cyp21a2 gene mutation in patients with congenital adrenal hyperplasia: molecular genetics report from saudi arabia
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362195/
https://www.ncbi.nlm.nih.gov/pubmed/25630015
http://dx.doi.org/10.15537/smj.2015.1.9697
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