Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1782361777488527360 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4362195 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Saudi Medical Journal |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT mohamedsarar acyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT elkholysuzan acyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT aljuryyannasir acyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT alnemriabdulrahmanm acyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT abuamerokhaledk acyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT mohamedsarar cyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT elkholysuzan cyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT aljuryyannasir cyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT alnemriabdulrahmanm cyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia AT abuamerokhaledk cyp21a2genemutationinpatientswithcongenitaladrenalhyperplasiamoleculargeneticsreportfromsaudiarabia |