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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1016/j.bbrc.2005.04.165

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1435-232X

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Mutational analysis of iATP7B/i gene in Egypti

Authors: Tawhida Y Abdelghaffar Solaf M Elsayed Ezzat Elsobky Bettina Bochow Janine Büttner Hartmut Schmidt
Publish Date: 2008/08
Volume: 53, Issue: 8, Pages: 681-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptThe aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort The study consisted of 48 children with Wilson disease from 32 independent families The 21 exons of the ATP7Bgene were amplified in a thermal cycler Direct sequencing of the amplified polymerase chain reaction PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic ABI sequencer Thirtyone different mutations in 96 chromosomes were detected 19 missense three nonsense seven frameshift deletions and two splicesite mutations Of these 12 mutations have not been previously reported The pN1270S pC703Y IVS182A G pR1319X c23042305insC and pH1069Q were present in 78 62 62 62 47 and 47 respectively of studied chromosomes in independent families One patient was homozygous for both pN1270S and pT1434M mutations Frameshift and nonsense mutations were found in 50 of patients with disease onset ≤8 years compared with only 26 in patients with onset 8 years Despite mutation heterogeneity in Egyptian children genotypephenotype correlation analysis seems to be promising in this population as many patients carry homozygous mutations a situation that mandates a largerscale population screening to identify the carrier rate in this community

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