ArticleWorld journal of gastroenterology2008
Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
Article in World journal of gastroenterology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.Molecular genetics & genomic medicine · 2019Article
- Liver biopsy derived induced pluripotent stem cells provide unlimited supply for the generation of hepatocyte-like cells.PloS one · 2019Article
- A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.Metallomics : integrated biometal science · 2018Review
- Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence.Liver research (Beijing, China) · 2017Article
- Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.World journal of pediatrics : WJP · 2017Article
- Pseudo-dominant inheritance in Wilson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Article
- Pseudo-dominant inheritance in Wilson’s disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Article
- Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.The Indian journal of medical research · 2015Article
- Wilson's disease: An endocrine revelation.Indian journal of endocrinology and metabolism · 2014Article
- Article
- Concordance rates of Wilson's disease phenotype among siblings.Journal of inherited metabolic disease · 2014Article
- Genetics of Wilson's disease: a clinical perspective.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2012Review
- Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.JIMD reports · 2012Article
- Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study the genotype phenotype correlation in Wilson's disease (WD) patients within families.
methodsWe report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classification of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced.
resultsFour separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identified. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.
conclusionWe report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype.
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