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Research ArticleOriginal Article
Open Access

Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease

Ruqayah GY. Al-Obaidi and Bassam MS. Al-Musawi
Saudi Medical Journal February 2025, 46 (2) 131-142; DOI: https://doi.org/10.15537/smj.2025.46.2.20240997
Ruqayah GY. Al-Obaidi
From the Department of Medical Genetics (Al-Obaidi), National Center for Educational Laboratories, Medical City Campus; and from Department of Pathology and Forensic Medicine (Al-Musawi), College of Medicine, University of Baghdad, Baghdad, Iraq.
MBChB, MSc
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Bassam MS. Al-Musawi
From the Department of Medical Genetics (Al-Obaidi), National Center for Educational Laboratories, Medical City Campus; and from Department of Pathology and Forensic Medicine (Al-Musawi), College of Medicine, University of Baghdad, Baghdad, Iraq.
MBChB, PhD
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  • ORCID record for Bassam MS. Al-Musawi
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References

  1. 1.↵
    1. Kasztelan-Szczerbinska B,
    2. Cichoz-Lach H
    . Wilson’s disease: An update on the diagnostic workup and management. J Clin Med 2021; 10: 5097.
    OpenUrlPubMed
  2. 2.↵
    1. Sánchez-Monteagudo A,
    2. Ripollés E,
    3. Berenguer M,
    4. Espinós C
    . Wilson disease: Facing the challenge of diagnosing a rare disease. Biomedicines 2021; 28; 9: 1100.
    OpenUrl
  3. 3.↵
    1. Chang IJ,
    2. Hahn SH
    . The genetics of Wilson disease. Handb Clin Neurol 2017; 142: 19-34.
    OpenUrlCrossRefPubMed
  4. 4.↵
    1. Lalioti V,
    2. Tsubota A,
    3. Sandoval IV
    . Disorders in hepatic copper secretion: Wilson’s disease and pleomorphic syndromes. Semin Liver Dis 2017; 37: 175-188.
    OpenUrlPubMed
  5. 5.↵
    1. Członkowska A,
    2. Litwin T,
    3. Dusek P,
    4. Ferenci P,
    5. Lutsenko S,
    6. Medici V, et al.
    Wilson disease. Nat Rev Dis Primers 2018; 4: 21.
    OpenUrlPubMed
  6. 6.↵
    1. Sandahl TD,
    2. Laursen TL,
    3. Munk DE,
    4. Vilstrup H,
    5. Weiss KH,
    6. Ott P
    . The prevalence of Wilson’s disease: An update. Hepatology 2020; 71: 722-732.
    OpenUrlCrossRefPubMed
  7. 7.↵
    1. Medici V,
    2. LaSalle JM
    . Genetics and epigenetic factors of Wilson disease. Ann Transl Med 2019; 7: S58.
    OpenUrl
  8. 8.↵
    European Association for the Study of the Liver. EASL clinical practice guideline: Wilson disease. J Hepatol 2012; 56 : 671-685.
    OpenUrlCrossRefPubMedWeb of Science
  9. 9.↵
    1. Nagral A,
    2. Sarma MS,
    3. Matthai J,
    4. Kukkle PL,
    5. Devarbhavi H,
    6. Sinha S, et al.
    Wilson’s Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India. J Clin Exp Hepatol 2019; 9: 74–98.
    OpenUrlPubMed
  10. 10.↵
    1. Mohammad AKH,
    2. Najeeb AA,
    3. Tawfeeq WF
    . Wilson Disease; Clinical presentation among patients attending Gastroenterology Clinic/ Baghdad Teaching Hospital. Al-Kindy Col Med J 2013; 9: p:117.
    OpenUrl
  11. 11.
    1. Salih MM,
    2. Ibrahim MF,
    3. Nader KE
    . Etiology and clinical patterns of liver disease in children. J Fac Med Baghdad 2018; 60: 76-79.
    OpenUrl
  12. 12.↵
    1. Tursun S,
    2. Gülerman HF
    . Wilson’s disease in children: Analysis of 41 cases. TJCL. March 2019; 10: 18-25.
    OpenUrl
  13. 13.↵
    1. Hawi ZA,
    2. Pugsley K,
    3. Namipashaki A,
    4. Samarrai W,
    5. Hawi Z
    . A review of consanguinity in the Iraqi population: A call to action to prevent a future health catastrophe. IHJPAS. 2024; 37: 67-73.
    OpenUrl
  14. 14.↵
    1. Arif HS,
    2. Thejeal RF
    . Etiology of chronic liver disease in Iraqi children, with special emphasis on the role of liver biopsy. Pak J Med Sci 2011; 27: 870-873.
    OpenUrl
  15. 15.↵
    1. Al-Ghanim KA
    . Consanguinity marriage in the Arab societies. J Psychol Clin Psychiatry 2020; 11: 166-168.
    OpenUrl
  16. 16.↵
    1. Hameed FG,
    2. Mahmood M,
    3. Sameh I,
    4. Sameh H
    . Demographic Characteristics of Iraqi patients with Wilson disease and clinical hepatic variations among different treatment protocols. IJDDT 2021; 11: 462-468.
    OpenUrl
  17. 17.↵
    1. Li H,
    2. Liu L,
    3. Li Y,
    4. He S,
    5. Liu Y,
    6. Li J, et al.
    Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods. Medicine (Baltimore) 2018; 97: e11405.
    OpenUrlPubMed
  18. 18.↵
    1. Poujois A,
    2. Woimant F
    . Wilson’s disease: A 2017 update. Clin Res Hepatol Gastroenterol 2018; 42: 512-520.
    OpenUrlPubMed
  19. 19.↵
    1. Hermann W
    . Classification and differential diagnosis of wilson’s disease. Ann Transl Med 2019; 7: S63.
    OpenUrlPubMed
  20. 20.↵
    1. Beyzaei Z,
    2. Mehrzadeh A,
    3. Hashemi N,
    4. Geramizadeh B
    . The mutation spectrum and ethnic distribution of Wilson disease, a review. Mol Genet Metab Rep 2023; 38: 101034.
    OpenUrlPubMed
  21. 21.↵
    1. Huang C,
    2. Fang M,
    3. Xiao X,
    4. Gao Z,
    5. Wang Y,
    6. Gao C
    . Genetic studies discover novel coding and non-coding mutations in patients with Wilson disease in China. J Clin Lab Anal 2022; 36: e24459.
    OpenUrlPubMed
  22. 22.↵
    1. Gorukmez O,
    2. Özgür T,
    3. Gorukmez O,
    4. Topak A
    . ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease. Fetal Pediatr Pathol 2023; 42: 891-900.
    OpenUrlPubMed
  23. 23.↵
    1. Abdul-Qadir AG,
    2. Al-Musawi BM,
    3. Thejeal RF,
    4. Al-Omar SAB
    . Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients. Egypt J Med Hum Genet 2021; 22: 45.
    OpenUrlPubMed
  24. 24.
    1. Stenson PD,
    2. Mort M,
    3. Ball EV,
    4. Evans K,
    5. Hayden M,
    6. Heywood S, et al.
    The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next generation sequencing studies. Hum Genet 2017; 136: 665–677.
    OpenUrlCrossRefPubMed
  25. 25.↵
    1. Coffey AJ,
    2. Durkie M,
    3. Hague S,
    4. McLay K,
    5. Emmerson J,
    6. Lo C, et al.
    A genetic study of Wilson’s disease in the United Kingdom. Brain 2013;136: 1476-1487.
    OpenUrlCrossRefPubMedWeb of Science
  26. 26.↵
    1. Bandmann O,
    2. Weiss KH,
    3. Kaler SG
    . Wilson’s disease and other neurological copper disorders. Lancet Neurol 2015; 14: 103-13.
    OpenUrlCrossRefPubMed
  27. 27.↵
    1. Gomes A,
    2. Dedoussis GV
    . Geographic distribution of ATP7B mutations in Wilson disease. Ann Hum Biol 2016; 43: 1–8.
    OpenUrlCrossRefPubMed
  28. 28.↵
    1. Collins CJ,
    2. Yi F,
    3. Dayuha R,
    4. Duong P,
    5. Horslen S,
    6. Camarata M, et al.
    Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease. Gastroenterology 2021; 160: 2367-2382.
    OpenUrlCrossRefPubMed
  29. 29.↵
    1. Xue Z,
    2. Chen H,
    3. Yu L,
    4. Jiang P
    . A systematic review and meta-analysis of theR778L mutation in ATP7B with Wilson disease in China. Pediatr Neurol 2023; 145: 135-147.
    OpenUrlPubMed
  30. 30.↵
    1. Chang IJ,
    2. Hahn SH
    . The genetics of Wilson disease. Handb Clin Neuro 2017; 142: 19-34.
    OpenUrl
  31. 31.↵
    1. Gao J,
    2. Brackley S,
    3. Mann JP
    . The global prevalence of Wilson disease from next-generation sequencing data. Genet Med 2019; 21: 1155-1163.
    OpenUrlCrossRefPubMed
  32. 32.↵
    1. Ovchinnikova EV,
    2. Garbuz MM,
    3. Ovchinnikova AA,
    4. Kumeiko VV
    . Epidemiology of Wilson’s disease and pathogenic variants of the ATP7B gene leading to diversified protein disfunctions. Int J Mol Sci 2024; 25: 2402.
    OpenUrlPubMed
  33. 33.↵
    1. Woimant F,
    2. Poujois A,
    3. Bloch A,
    4. Jordi T,
    5. Laplanche JL,
    6. Morel H, et al.
    A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease. Mol Genet Genomic Med 2020; 8: e1428.
    OpenUrl
  34. 34.↵
    1. Xiao Z,
    2. Yang Y,
    3. Huang H,
    4. Tang H,
    5. Liu L,
    6. Tang J, et al.
    Molecular analysis of 53 Chinese families with Wilson’s disease: Six novel mutations identified. Mol Genet Genomic Med 2021; 9: e1735.
    OpenUrlPubMed
  35. 35.↵
    1. Hames A,
    2. Khan S,
    3. Gilliland C,
    4. Goldman L,
    5. Lo HW,
    6. Magda K, et al.
    Carriers of autosomal recessive conditions: are they really ‘unaffected?’. J Med Genet 2023; 61: 1–7.
    OpenUrlPubMed
  36. 36.↵
    1. Frisso G,
    2. Detta N,
    3. Coppola P,
    4. Mazzaccara C,
    5. Pricolo MR,
    6. D’Onofrio A, et al.
    Functional studies and In Silico analyses to evaluate non-coding variants in inherited cardiomyopathies. Int J Mol Sci 2016; 10; 17: 1883.
    OpenUrl
  37. 37.↵
    1. Lafhal K,
    2. Sabir ES,
    3. Hakmaoui A,
    4. Hammoud M,
    5. Aimrane A,
    6. Najeh S, et al.
    biochemical and molecular characterization of Wilson’s disease in Moroccan patients. Mol Genet Metab Rep 2023; 7; 36: 100984.
    OpenUrl
  38. 38.↵
    1. Amson M,
    2. Lamoureux E,
    3. Hilzenrat N,
    4. Tischkowitz M
    . Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum. Can J Gastroenterol 2012; 26: 330-332.
    OpenUrlPubMed
  39. 39.↵
    1. Lepori MB,
    2. Zappu A,
    3. Incollu S,
    4. Dessì V,
    5. Mameli E,
    6. Demelia L, et al.
    Mutation analysis of the ATP7B gene in a new group of Wilson disease patients: contribution to diagnosis. Mol Cell Probes 2012; 26: 147-150.
    OpenUrlCrossRefPubMed
  40. 40.↵
    1. Couchonnal E,
    2. Bouchard S,
    3. Sandahl TD,
    4. Pagan G,
    5. Lion-Francois L,
    6. Guillaud O, et al.
    ATP7B variant spectrum in a French pediatric Wilson disease cohort. Eur J Med Genet 2021; 64: 104305.
    OpenUrlPubMed
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Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease
Ruqayah GY. Al-Obaidi, Bassam MS. Al-Musawi
Saudi Medical Journal Feb 2025, 46 (2) 131-142; DOI: 10.15537/smj.2025.46.2.20240997

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Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease
Ruqayah GY. Al-Obaidi, Bassam MS. Al-Musawi
Saudi Medical Journal Feb 2025, 46 (2) 131-142; DOI: 10.15537/smj.2025.46.2.20240997
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Keywords

  • ATP7B
  • Next-Generation Sequencing
  • Wilson disease
  • children
  • Iraq
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