title: Molecular Analysis ofCYP21A2Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.
abstract: Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. AnalyzingCYP21A2gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency ofCYP21A2mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis ofCYP21A2gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.
authors: Genetic Counseling Clinic and Genetics Laboratory, The Teaching Laboratories, Medical City, Baghdad, Iraq.
authors: Ruqayah G Y
authors: RG
authors: Al-Obaidi
authors: Department of Pathology, College of Medicine, Baghdad University, Baghdad, Iraq.
authors: Bassam M S
authors: 0000-0002-4404-377X
authors: BM
authors: Al-Musawi
authors: Department of Pediatrics, College of Medicine, Baghdad University and Pediatric Endocrine Consultation Clinic, Children Welfare Hospital, Baghdad, Iraq.
authors: Munib Ahmed K
authors: MA
authors: Al-Zubaidi
authors: ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, 1120 Vienna, Austria.
authors: Christian
authors: C
authors: Oberkanins
authors: ViennaLab Diagnostics GmbH, Gaudenzdorfer Guertel 43-45, 1120 Vienna, Austria.
authors: Stefan
authors: S
authors: Németh
authors: National Center of Hematology, Al-Mustansiriya University, Baghdad, Iraq.
authors: Yusra G Y
authors: YG
authors: Al-Obaidi