Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

World Journal of Gastroenterology : WJG
Kassem BaradaJulnar Usta

Abstract

To determine the phenotypes and predominant disease-causing mutations in Lebanese patients with Wilson's disease, as compared to regional non-European data. The clinical profile of 36 patients diagnosed in Lebanon was studied and their mutations were determined by molecular testing. All patients underwent full physical exam, including ophthalmologic slit-lamp examination ultrasound imaging of the liver, as well as measurement of serum ceruloplasmin and 24-h urinary-Cu levels. In addition, genetic screening using PCR followed by sequencing to determine disease-causing mutations and polymorphisms in the ATP7B gene was carried on extracted DNA from patients and immediate family members. Our phenotypic-genotypic findings were then compared to reported mutations in Wilson's disease patients from regional Arab and non-European countries. Patients belonged to extended consanguineous families. The majority were homozygous for the disease-causing mutation, with no predominant mutation identified. The most common mutation, detected in 4 out of 13 families, involved the ATP hinge region and was present in patients from Lebanon, Egypt, Iran and Turkey. Otherwise, mutations in Lebanese patients and those of the region were scattered over 17...Continue Reading

References

Feb 1, 1995·Nature Genetics·G R ThomasD W Cox
Mar 1, 1993·Journal of Hepatology·I Sternlieb
Mar 3, 1998·Human Mutation·H KalinskyB Bonne-Tamir
Oct 12, 2002·Journal of Human Genetics·Yukiko TakeshitaTsugutoshi Aoki
Sep 6, 2003·Liver International : Official Journal of the International Association for the Study of the Liver·Peter FerenciFrieder Berr
Jan 30, 2004·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M Al JumahZ Rehana
Jul 13, 2005·Proceedings of the National Academy of Sciences of the United States of America·Mario F FragaManel Esteller
Oct 20, 2005·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Peter Ferenci
Aug 26, 2006·Nature Clinical Practice. Neurology·Shyamal K Das, Kunal Ray
Feb 3, 2007·European Journal of Gastroenterology & Hepatology·Aniko FolhofferFerenc Szalay
Mar 21, 2007·Lancet·Lorenzo LeggioGiovanni Addolorato
May 17, 2008·Journal of Human Genetics·Tawhida Y AbdelghaffarHartmut Schmidt
Mar 24, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Anna CzłonkowskaGrzegorz Chabik
Oct 9, 2009·Reproductive Health·Ghazi O TadmouriHanan A Hamamy
May 21, 2010·Journal of Clinical Gastroenterology·Kassem BaradaJulnar Usta
Jun 21, 2011·BMC Pediatrics·Tawhida Y Abdel GhaffarHartmut Schmidt
Nov 8, 2011·Arab Journal of Gastroenterology : the Official Publication of the Pan-Arab Association of Gastroenterology·Hanaa El-KaraksyMortada El-Shabrawi
Feb 7, 2012·Hepatitis Monthly·Narges ZaliMohammad Reza Zali
Feb 22, 2012·Journal of Hepatology·UNKNOWN European Association for Study of Liver
Jan 22, 2013·European Journal of Medical Genetics·Ozlenen Simsek PapurOrhan Terzioglu
Mar 15, 2013·European Journal of Human Genetics : EJHG·Alessandro GialluisiGiovanni Romeo
Mar 22, 2014·Expert Review of Gastroenterology & Hepatology·Peter Ferenci
Apr 16, 2014·Annals of the New York Academy of Sciences·Si Houn Hahn
Jun 1, 2014·European Journal of Medical Genetics·Cong-Xia LuChi-Meng Tzeng
Dec 4, 2014·Arab Journal of Gastroenterology : the Official Publication of the Pan-Arab Association of Gastroenterology·Fatma A El-MougyHanaa M El-Karaksy
Apr 23, 2015·The Indian Journal of Medical Research·Arnab Gupta
Sep 7, 2016·European Journal of Medical Genetics·Tingxia LvJian Huang

❮ Previous
Next ❯

Citations

Feb 1, 2019·Journal of Inorganic Biochemistry·C GerosaG Faa

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.