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Gene & Protein in Disease Regulatory elements of ATP7B in WD

acknowledge the support of DST PURSE for the The Wilson disease gene is a putative copper transporting
department’s infrastructure development, which aided the P-type ATPase similar to the Menkes gene. [Published
research. correction appears in Nat Genet. 1994;6(2):214]. Nat Genet.
1993;5(4):327-337.
Funding doi: 10.1038/ng1293-327
Shubhrajit Roy was supported by the University Grants 4. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW.
Commission Junior Research fellowship (UGC-JRF) from The Wilson disease gene: Spectrum of mutations and their
UGC, Govt. of India. consequences. [Published correction appears in Nat Genet.
1995;9(4):451]. Nat Genet. 1995;9(2):210-217.
Conflict of interest doi: 10.1038/ng0295-210
The authors declare that they have no conflicts of interest. 5. Kumar M, Gaharwar U, Paul S, et al. WilsonGen a
comprehensive clinically annotated genomic variant
Author contributions resource for Wilson’s disease. Sci Rep. 2020;10(1):9037.
Conceptualization: Shubhrajit Roy, Mainak Sengupta doi: 10.1038/s41598-020-66099-2
Formal analysis: Shubhrajit Roy, Mainak Sengupta 6. Wang J, Tang L, Xu A, Zhang S, Jiang H, Pei P, et al.
Investigation: Shubhrajit Roy, Sreyashi Bhattacharya, Identification of mutations in the ATP7B gene in 14
Arpan Saha, Asif Iqbal, Sampurna Ghosh, Debmalya Wilson disease children: Case series. Medicine (Baltimore).
Sengupta, Shyamal Kumar Das, Prasanta Kumar 2021;100(16):e25463.
Gangopadhyay, Ashish Bavdekar, Kunal Ray, Jharna
Ray doi: 10.1097/MD.0000000000025463
Methodology: Shubhrajit Roy, Sreyashi Bhattacharya, 7. Beyzaei Z, Mehrzadeh A, Hashemi N, Geramizadeh B.
Arpan Saha, Sampurna Ghosh, Debmalya Sengupta The mutation spectrum and ethnic distribution of Wilson
Writing – original draft: Shubhrajit Roy disease, a review. Mol Genet Metab Rep. 2023;38:101034.
Writing – review & editing: Shubhrajit Roy, Asif Iqbal, doi: 10.1016/j.ymgmr.2023.101034
Mainak Sengupta
8. Gomes A, Dedoussis GV. Geographic distribution of ATP7B
Ethics approval and consent to participate mutations in Wilson disease. Ann Hum Biol. 2016;43(1):1-8.
doi: 10.3109/03014460.2015.1051492
The study protocols complied with the Declaration of
Helsinki. In line with ICMR guidelines, we obtained 9. Das SK, Ray K. Wilson’s disease: An update. Nat Clin Pract
institutional ethics clearance (reference number: 07/ Neurol. 2006;2(9):482-493.
ST/20-21/1781). All participants provided informed doi: 10.1038/ncpneuro0291
written consent, except in the cases of minors, where their 10. Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS,
parents signed the consent form. Arunodaya GR. Wilson disease: Description of 282 patients
evaluated over 3 decades. Medicine (Baltimore).
Consent for publication 2007;86(2):112-121.
The patients provided consent for their genetic analysis doi: 10.1097/MD.0b013e318045a00e
results to be published, despite being anonymous.
11. Saha A, Das S, De S, et al. An effort to identify genetic
Availability of data determinants in siblings with wilson disease manifesting
striking clinical heterogeneity: An exome profiling study of
Raw data will be available on request. two Indian families. Pediatr Neurol. 2024;155:1-7.

References doi: 10.1016/j.pediatrneurol.2024.03.005
12. Martinelli D, Travaglini L, Drouin CA, et al. MEDNIK
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doi: 10.1038/s41572-018-0018-3 2013;136(Pt 10):e256]. Brain. 2013;136(Pt 3):872-881.
2. Lutsenko S, Roy S, Tsvetkov P. Mammalian copper doi: 10.1093/brain/awt012
homeostasis: Physiological roles and molecular mechanisms. 13. Chiplunkar S, Bindu PS, Nagappa M, et al. Huppke-brendel
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syndrome in a seven months old boy with a novel 2-bp deletion
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3. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. doi: 10.1007/s11011-016-9854-6

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