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4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.

ABSTRACT: BACKGROUND:In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex analysis and DNA sequencing. AIMS:To screen for the above mutation in patients with WD and carriers using an amplification refractory mutation system (ARMS). METHODS:ARMS was used to screen for the 4193delC mutation in 30 patients with WD and their relatives. RESULTS:A homozygous mutation was detected in 16 of 30 patients with WD. CONCLUSIONS:This polymerase chain reaction based method, which has been known for years, is a simple, inexpensive, and rapid method for screening common and specific mutations in patients with WD and carriers.

SUBMITTER: Majumdar R

PROVIDER: S-EPMC1187343 | biostudies-literature | 2003 Oct

REPOSITORIES: biostudies-literature

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4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.

Majumdar R R Al Jumah M M Fraser M M

Molecular pathology : MP 20031001 5

<h4>Background</h4>In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex analysis and DNA sequencing.<h4>Aims</h4>To screen for the above mutation in patients with WD and c ...[more]

PMID: 14514926

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Project description:Background: Neurological manifestations have increasingly become recognized in COVID-19. People from different ethnic backgrounds are experiencing different outcomes related to SARS-CoV-2 infection. Several cohort studies reported the common neurological manifestations and complications associated with COVID-19 disease around the world however, the prevalence of neurological complications associated with SARS-CoV-2 infection in the Arab countries and Saudi Arabia is still unknown. Objective: To study the prevalence, risk factors, and characteristics of the neurological complications associated with COVID-19 and their relationship with clinical outcomes. Methods: We conducted a prospective, single-center, observational, cohort study of consecutive hospitalized adults COVID-19 patients with and without neurological manifestation admitted between March 2020 until the end of December 2020. Data was collected prospectively using electronic medical records; Cases and controls were observed until they either get discharged from the hospital or died. The primary outcomes were death, survival, and survival with sequalae. Results: Among 497 patients with COVID-19, 118 patients (23.7%) had neurological complications, 94 patients (18.9%) had encephalopathy, and 16 patients (3.2%) had cerebrovascular accidents (CVA). Patients with COVID-19-related neurological complications were older and more likely to have a pre-existing neurological disease. The most common neurological syndrome associated with COVID-19 were encephalopathy (18.9%) and headache (13.7%). Pre-existing neurological disease and an elevated neutrophil count were the strongest predictors of developing any neurological complications. Death form COVID-19 was associated with age (OR 1.06, 95% CI 1.02-1.10, P = 0.001), invasive ventilation (OR 37.12, 95% CI 13.36-103.14), COVID-19-related-neurological complications (OR 3.24, 95% CI 1.28-8.21, P = 0.01), and elevated CRP level (OR 1.01, 95% CI 1.00-1.01, P = 0.01). Conclusions: COVID-19 is associated with a wide range of neurological manifestations in people living in Saudi Arabia, with older individuals and those with underlying neurological disorders being most at risk. The presence of neurological complications was associated with increased mortality and poor outcomes.

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4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.

Publications

4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers.

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