Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort

•38% of the patients were off-springs of consanguineous parents.•Five novel variants (3 mutations and 2 polymorphisms) were found in the ATP7B gene.•Arg1041Trp, Leu1043Pro mutations were discovered for the first the time in India.•Study helped to find the common mutations in a regional population of South India.

Wilson disease is an autosomal recessive disorder of abnormal copper accumulation in the liver, brain, kidney and cornea, resulting in hepatic and neurological abnormalities, which results from impaired ATP7B protein function due to mutations in candidate ATP7B gene, till date more than 500 disease causing mutations were found. In India most disease causing mutations were identified in ATP-BD. DNA samples of the 101 WD cases and 100 control population were analyzed for mutations. 11 mutations were identified in 57 chromosomes. Three novel mutations, c.3310 T > A (p.Cys1104Ser), c.3337C > A (p.Leu1113Met) on exon 15 and c.3877G > A (p.Glu1293Lys) on exon 18 were identified for the first time in the ATP7B gene. Two mutations, c.3121C > T (p.Arg1041Trp) and c.3128 T > C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients. Four previously reported mutations c.3008C > T, c.3029A > G on exon 13, c.3182G > A on exon 14 and c.3809A > G on exon 18 from South India were also found in this study. Our research has enriched the spectrum of mutations of the ATP7B gene in the south Indian population. The detection of new mutations in the ATP7B gene can aid in genetic counseling and clinical or/prenatal diagnosis.