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

Singh, Nivedita and Kallollimath, Pradeep and Shah, Mohd Hussain and Kapoor, Saketh and Bhat, Vishwanath Kumble and Viswanathan, Lakshminarayanapuram Gopal and Nagappa, Madhu and Bindu, Parayil S and Taly, Arun B and Sinha, Sanjib and Kumar, Arun (2019) Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. In: PLOS ONE, 14 (5).

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Official URL: https://doi.org/10.1371/journal.pone.0215779


Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six different ATP7B mutations, including 13 novel ones p.Ala58fs*19, p.Lys74fs*9, p.GIn281*, p.Pro350fs*12, p.Ser481*, p.Leu735Arg, p.Va1752Gly, p.Asn812fs*2, p.Va1845Ala, p.His889Pro, p.11e1184fs*1, p.Va11307Glu and p.Ala1339Pro], were identified in 76/102 families. Interestingly, the mutation analysis of affected individuals in two families identified two different homozygous mutations in each family, and thus each affected individual from these families harbored two mutations in each ATP7B allele. Of 36 mutations, 28 were missense, thus making them the most prevalent mutations identified in the present study. Nonsense, insertion and deletion represented 3/36, 2/36 and 3/36 mutations, respectively. The haplotype analysis suggested founder effects for all the 14 recurrent mutations. Our study thus expands the mutational landscape of ATP7B with a total number of 758 mutations. The mutations identified during the present study will facilitate carrier and pre-symptomatic detection, and prenatal genetic diagnosis in affected families.

Item Type: Journal Article
Publication: PLOS ONE
Additional Information: Copyright for this article belongs to the Authors.
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 24 May 2019 12:03
Last Modified: 18 Oct 2022 06:43
URI: https://eprints.iisc.ac.in/id/eprint/62725

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