Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Singh, Nivedita; Kallollimath, Pradeep; Shah, Manisha; Kapoor, Saketh; Bhat, Vasudeva; Viswanathan, Lakshminarayanapuram Gopal; Nagappa, Madhu; Bindu, Parayil Sankaran; Taly, Arun B.; Sinha, Sanjib; Kumar, Arun

doi:10.1371/journal.pone.0215779

Cited by 13 publications

(18 citation statements)

References 23 publications

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“…In three patients a single heterozygous pathogenic variant was detected, leaving the possibility of variation in other genes or presence of modifiers, deep intronic variants, or intragenic deletions. As reported previously, the mutations were distributed across the gene in different exons including 2, 8, 13, 14, 15,17,18, and 19 [7][8][9][10] . Most mutations (~45%) were located in exons 2 and 8 (n=7) & were clustered at the ATP binding domain.…”

mentioning

confidence: 81%

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study

Aaron

Chapla

Danda

et al. 2022

Journal of Clinical and Experimental Hepatology

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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mentioning

confidence: 81%

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study

Aaron

Chapla

Danda

et al. 2022

Journal of Clinical and Experimental Hepatology

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“…More than 750 mutations in ATP7B gene have been reported to date. [ 19 ] After the first report from North India,[ 20 ] several genetic studies have been published from India. ( ) A recent study from South India reported 36 different ATP7B mutations, with 13 of them being novel ones.…”

Section: G Enetics Of Wdmentioning

confidence: 99%

“…( ) A recent study from South India reported 36 different ATP7B mutations, with 13 of them being novel ones. [ 19 ] While p.His1069Glu mutation at exon 14 is most frequently reported in European population, p.Arg778Leu missense mutation at exon 8 is most common in Asians. [ 19 21 ] A genetic study involving 43 WD patients from North-West India reported exons 8,12,13,15,16 and 18 as hot spots for mutations.…”

Section: G Enetics Of Wdmentioning

confidence: 99%

“…[ 19 ] While p.His1069Glu mutation at exon 14 is most frequently reported in European population, p.Arg778Leu missense mutation at exon 8 is most common in Asians. [ 19 21 ] A genetic study involving 43 WD patients from North-West India reported exons 8,12,13,15,16 and 18 as hot spots for mutations. [ 22 ] Compared to the western world, a higher degree of homozygosity (up to 60%) have been reported in India,[ 21 ] possibly related to intra-ethnic group or intra-caste marriages and consanguinity.…”

Section: G Enetics Of Wdmentioning

confidence: 99%

“…[ 21 23 ] While pC271X mutation is most commonly detected in India cases,[ 21 24 ] a variety of other mutations are also reported. [ 19 21 24 ]…”

Section: G Enetics Of Wdmentioning

confidence: 99%

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Wilson's Disease Update

Kumar¹,

Prashant²,

Goyal³

2021

Annals of Indian Academy of Neurology

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Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with the liver and brain being primarily affected. WD being a treatable disorder, early diagnosis and proper management may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in the Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases, with a high rate of consanguinity. Up to two-third of the Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering back to pre-morbid functionality with adequate therapy.

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Genetic Movement Disorders Commonly Seen in Asians

Jagota

Lim

Pal

et al. 2023

Movement Disord Clin Pract

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The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Sträussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.

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Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Cited by 13 publications

References 23 publications

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study

Wilson's Disease Update

Genetic Movement Disorders Commonly Seen in Asians

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