Sorting Intolerant from Tolerant and PolyPhen-2 Algorithms: A Variation in Exon 14 of ATP7B Gene among 4 West Iraqi Families with Wilson’s Disease

Abstract

Background: Wilson disease (WD) is a genetic disorder (autosomal recessive) that affects copper metabolism. A favorable prognosis for WD can be achieved with early diagnosis and treatment. It is also strongly advised to conduct a family screening.Objective: To find the relationship between genotype and phenotype to facilitate the diagnosis of the disease as well as using modern methods in diagnosing WD.Methods: This study included nine WD patients and fifteen healthy participants. Members of patients with WD and healthy members provided whole blood. Blood DNA was extracted, and Exon 14 was amplified using specific primers using polymerase chain reaction (PCR). The results of the PCR products were aligned to the published human genome database using the BLAST tool.Results: Three different variations have been recorded as a result of the experiment. All of the changes point to a deficiency in the ATP7B protein, which has been identified as a cause of WD.Conclusions: The ATP7B gene mutation spectrum in Iraqi patients has been enhanced as a result of our research, and this information could be used to develop gene therapy and clinical/prenatal diagnosis to prevent WD in Iraq.

Keywords

• sift
• polyphen-2
• variation
• exon
• wilson disease