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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

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Publication Date
Wed Apr 01 2026
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Sequencing of Catalytic Serine Protease, Linker, and Activation Peptide Domains-Coding Regions of the F9 Gene in Iraqi Hemophilia B Patients
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Background: Hemophilia B is an X-linked recessive disorder caused by mutations in the F9 gene, causing bleeding tendency predominantly in males. The mutational spectrum of the F9 gene has not been adequately studied in Iraq. Objectives: To detect the disease-causing variants of exons 6, 7, and 8 and immediate introns of F9 gene using Sanger sequencing among Iraqi hemophilia B patients and to correlate them with phenotypes. Methods: Forty Iraqi hemophilia B patients were recruited for this cross-sectional study from The Hereditary Bleeding Disorder Ward in the Children Welfare Teaching Hospital, Medical City, Baghdad, between November 2021 and April 2022 using a consecutive sampling technique. Peripheral blood samples were used for sequencin

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Publication Date
Tue Aug 01 2017
Journal Name
International Journal Of Agriculture And Biology
Molecular Characterization of a Leaf Curl Disease Infecting Zucchini Squash in Iraq
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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Adenoid Hypertrophy in Adults and Nasal Obstruction
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Background .To know the incidence of adenoid hypertrophy in adults causing nasal obstruction and other nasal complains.
Methods.Prospective studyof(140 ) adult patientstheir main chief complaint were nasal obstruction , presented to Otolaryngology department at Aljumhory Teaching Hospital in Mosul , from the period (september 2010 to september 2011) ,their age ranged from (21 to 53) years . They were investigated clinically, radiologicaly ,and nasal endoscopic examination was carried out (rigid and fibro-optic ) . Adenoidectomy was performed for those with adenoid hypertrophy and sent for histopathological study .
Results:. we found adenoid enlargement in(24) patients (17.14%),in addition to nasalobstruction they were also complain

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Publication Date
Wed Dec 24 2025
Journal Name
Baghdad Science Journal
Association of CTGF and TGF –ß1 With Glomerulus Fibrosis in Iraqi Diabetic Patients With Chronic Kidney Disease
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Publication Date
Sun Sep 20 2020
Journal Name
Biochemical And Cellular Archives
MOLECULAR INVESTIGATION OF EPSTEIN-BARR VIRUS IN IRAQI PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA
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Chronic lymphocytic leukemia (CLL) is one type of leukemia that arises from lymphocytes' progenitor cell in the Bone marrow, it affects individuals over the age of 50 years in both genders. In Iraq, leukemia affected 1532 (847 males and 683 females) according to the latest announced statistics of the Iraqi Cancer Registry Center in 2012. Chronic lymphocytic leukemia may occur due to several genetic causes, such as chromosomal aberrations and gene mutations, or exposure to carcinogens and mutagens (radiation, chemicals, and oncogenic viruses). The most famous virus is the Epstein-Barr virus (EBV), which is a gamma herpesvirus that infects more than 90% of individuals. Its infection is mostly a latent infection, and EBV remains latent in memo

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Waterpipe tobacco smoking and gene variants of CYP1A1-Ile462Val and -MspI polymorphisms are possibly associated with the risk of lung cancer in the Iraqi population
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Background: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev

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Publication Date
Wed Jul 05 2017
Journal Name
International Journal Of Science And Research (ijsr)
Hyperglycosylated hCG in a Group of Iraqi Patients with Gestational Trophoblastic Disease
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Background : Hyperglycosylated hCG a newly discovered variant of hCG which can be used as a predictor of invasion of trophoblastic cells in patient with gestational trophoblastic disease. Objectives : To measure hyperglycosylated human chorionic gonadotrophin and to assess how far it can be used as predictor of invasion in invasive mole and choriocarcinoma. Study design control study. Setting: : Case Gynecological department in Baghdad Teaching Hospital from January 2016 to January 2017. Patient and Methods : 60 women were enrolled in this study 30 of them were with gestational trophoblastic disease (no.= 30 ) the remainder were normal pregnancy (no. =30) , hCG –H level was measured in both groups. Results : Mean serum hCG-H le

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Publication Date
Sat May 30 2026
Journal Name
Journal Of Baghdad College Of Dentistry
The relationship among bite force with facial dimensions and dental arches widths in a sample of Iraqi adults with Class I skeletal and dental relations
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Background: This study aimed to determine whether there is a relationship among the bite force with facial dimensions and dental arches in a sample of Iraqi adults with Class I skeletal and dental relations. Materials and methods: Forty dental students (20 males and 20 females) were selected under certain criteria. For those individuals, dental impressions, frontal facial photographs and maximum bite force at molar and incisor regions were taken. The dental arches widths and facial dimensions were measured using the AutoCAD program 2007, while the bite force was determined using special device. Descriptive statistics for the measured variables were performed and gender difference was determined using independent sample t-test, while the rel

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Publication Date
Mon Jun 01 2020
Journal Name
Journal Of Coloproctology
Obesity and helicobacter pylori infection in adults with non specific colitis
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Abstract<p> Background Non specific colitis is defined as inflammatory condition of the colon that when examined microscopically lacks any characteristic features of any specific form of colitis and is commonly seen in reports of colonoscopy biopsies. There are many factors that cause it like obesity and H pylori.</p><p> Aim of the study To determine the association of obesity and H pylori as contributory factors to this disease.</p><p> Patients and methods This is a case-controlled study was carried out in Al-Kindy College of Medicine from January 2017 to June 2018. Sixty individuals were included; forty of them had non specific colitis. The rest were hea</p> ... Show More
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Publication Date
Sat Apr 01 2023
Journal Name
Baghdad Science Journal
Detour Polynomials of Generalized Vertex Identified of Graphs
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The Detour distance is one of the most common distance types used in chemistry and computer networks today. Therefore, in this paper, the detour polynomials and detour indices of vertices identified of n-graphs which are connected to themselves and separated from each other with respect to the vertices for n≥3 will be obtained. Also, polynomials detour and detour indices will be found for another graphs which have important applications in Chemistry.

 

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