Molecular Analysis of CYP21A2 Gene Mutations among Congenital Adrenal Hyperplasia Patients in Iraq

A category of autosomal recessive illnesses known as congenital adrenal hyperplasia. 21-hydroxylase insufficiency is the most common. Iraq has yet to report on the analysis of CYP21A2 gene mutations. The goal of this study is to look at the range and frequency of CYP21A2 mutations in Iraqi CAH patients. From September 2014 to June 2015, sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic at the Children Welfare Teaching Hospital in Baghdad, Iraq. Their ages ranged from one day to fifteen years. Salt wasting, simple virilization, or pseudoprecocious puberty were all symptoms. For instances with ambiguous genitalia, a cytogenetic analysis was carried out. The CYP21A2 gene has been studied at the molecular level. >50% of significant gene deletions/conversions are caused by mutations. Patients with mutations were detected in 42 (67.7%) of cases; 31 (50%) were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with three mutations, while 20 (32.3%) had none of the mutations evaluated. Large gene deletions/conversions were the most common mutations, with 12 (19.4%) patients having them, followed by I2Splice and Q318X with 8 (12.9%) patients each, I172N with 5 (8.1%) patients, and V281L with 4 (6.5%) patients. Del 8 bp, P453S, and R483P were all discovered in one sample (1.6 percent ) In two cases, complicated alleles were discovered (3.2 percent ). There were no point mutations found in any of the patients (P30L, Cluster E6, L307 frameshift, and R356W). Finally, gene deletions/conversions and 7 point mutations were found in varied amounts, with the former being the most common, which is consistent with what has been reported in other regions.

Author (S) Details

Dr. Ruqayah G. Y. Al-Obaidi
Genetic Counseling Clinic and Genetics Laboratory, The Teaching Laboratories, Medical City, Baghdad, Iraq.

Assist. Professor Dr. Bassam
Department of Pathology, College of Medicine, University of Baghdad, Baghdad, Iraq.

Professor Dr. Munib Ahmed K. AlZubaidi
Department of Pediatrics, College of Medicine, University of Baghdad and Pediatric Endocrine Consultation Clinic, Children Welfare Hospital, Baghdad, Iraq.

Dr. Christian Oberkanins
ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, 1120 Vienna, Austria.

Stefan Németh
ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, 1120 Vienna, Austria.

Yusra G. Y. Al-Obaidi
National Center of Hematology, Al-Mustansiriya University, Baghdad, Iraq.

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