کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3446441 1595465 2015 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China
ترجمه فارسی عنوان
تجزیه و تحلیل ژنتیک و بالینی در یک گروه از بیماران مبتلا به بیماری ویلسون در جنوب غربی چین
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
چکیده انگلیسی

Background and AimsWilson's disease (WD), characterized by a disorder of copper metabolism, is an inherited autosomal recessive disease caused by mutations in the ATP7B gene.MethodsTo explore genotype-phenotype correlations in Chinese WD patients and to evaluate the frequency of the ATP7B mutations, we described 77 clinically and biochemically confirmed WD patients and detected mutations in ten WD families from southwestern China. Clinical features were presented and all the exons of the ATP7B gene were screened.ResultsThe appearance of Kayser-Fleischer (K-F) rings was closely related to onset age, particularly before 10 years old. For those patients with predominantly neurological symptoms, MRI was the most sensitive and preferred examination. Eight mutations of the ATP7B gene were detected including seven reported mutations (c.2302dup, c.2304delC, c.2333 G>T, c.2621 C>T, c.2755 C>G, c.2975 C>T and c.1366 G>C) and four novel mutations (c.3446 G>A, c.3767insCA, c.3406 G>A and c.3700delG). c.2333 G>T was detected in 6/20 alleles (30%), accounting for the largest proportion, which could be regarded as a mutation hotspot in this region.ConclusionsOur study extends the mutation spectrum of ATP7B and analyzes the relationship between mutations in the ATP7B gene and clinical findings of WD.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Archives of Medical Research - Volume 46, Issue 2, February 2015, Pages 164–169
نویسندگان
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