We are analyzing https://link.springer.com/article/10.1007/s10545-010-9123-5.

Title:
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease | Journal of Inherited Metabolic Disease
Description:
Wilson disease (WD) is an autosomal-recessive copper overload disorder caused by mutations in the copper-transporting adenosine triphosphatase (ATPase) ATP7B. It presents with a highly variable clinical phenotype ranging from asymptomatic to fulminant hepatic failure or progressive neurological involvement. No clear genotype–phenotype correlation has been established. Thus, variants in modifier genes could have an impact on WD manifestation and severity. Recently, the antiapoptotic protein baculoviral IAP repeat-containing protein 4 BIRC4/XIAP has been suggested as a regulator of copper-induced cell death. With the aim of investigating a putative role of BIRC4/XIAP as modifier gene in individuals with copper overload, we analyzed a WD patient cohort (n = 98) for sequence variants at the BIRC4/XIAP locus. When compared with clinical data, the previously described coding single nucleotide polymorphisms (SNPs) at the BRIC4/XIAP locus (rs28382721, rs28382722, rs28382723, rs5956583, rs28382740, rs12838858, rs28382741) did not correlate with age of onset or clinical presentation in our collective. However, three previously unreported variants in the BIRC4/XIAP gene were identified (c.1-26 T > G; c.1408A > T; p.T470S; c.1019A > G; p.N340S). The two patients with variants leading to amino acid exchanges in the BIRC4/XIAP protein showed a remarkably early disease onset at the age of 5 years. Furthermore, one of these patients was only heterozygous for disease-causing mutations in the ATP7B gene. In summary, these data emphasize the need to further elucidate a role of BIRC4/XIAP variants as putative pathogenetic factors in copper overload disorders.
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article, google, scholar, pubmed, disease, cas, copper, gene, wilson, protein, bircxiap, patients, murr, atpb, wilsons, toxicosis, clinical, genet, analysis, genetic, access, weiss, variants, xiap, gastroenterology, privacy, cookies, content, data, journal, putative, mutations, genotypephenotype, correlation, mutation, metabolism, canine, heidelberg, information, publish, research, search, modifier, ferenci, overload, cell, role, open, commd, diagnosis,

Topics {✒️}

month download article/chapter clear genotype–phenotype correlation copper-transporting adenosine triphosphatase copper-induced cell death mouse u2af1-rs1 region intracellular copper transport x-linked lymphoproliferative syndrome menkes disease gene copper overload disorders genotype-phenotype correlation karl heinz weiss electronic supplementary material birc4/xiap protein showed canine copper toxicosis copper transporting atpase genotype-phenotype correlations related subjects baculoviral iap repeat full article pdf common variable immunodeficiency copper metabolism gene privacy choices/manage cookies copper toxicosis disorders copper-induced translocation copper storage disease putative modifier gene copper overload cellular copper transport menkes gene article weiss wilson disease gene x-linked inhibitor differential allelic expression daniel nils gotthardt putative pathogenetic factors wilson disease protein fulminant hepatic failure birc4/xiap gene european economic area progressive neurological involvement amino acid exchanges check access small effect sizes long-term outcome international hapmap project excellent technical assistance dietmar hopp foundation polymerase chain reaction instant access wd patient cohort

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         headline:Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
         description:Wilson disease (WD) is an autosomal-recessive copper overload disorder caused by mutations in the copper-transporting adenosine triphosphatase (ATPase) ATP7B. It presents with a highly variable clinical phenotype ranging from asymptomatic to fulminant hepatic failure or progressive neurological involvement. No clear genotype–phenotype correlation has been established. Thus, variants in modifier genes could have an impact on WD manifestation and severity. Recently, the antiapoptotic protein baculoviral IAP repeat-containing protein 4 BIRC4/XIAP has been suggested as a regulator of copper-induced cell death. With the aim of investigating a putative role of BIRC4/XIAP as modifier gene in individuals with copper overload, we analyzed a WD patient cohort (n = 98) for sequence variants at the BIRC4/XIAP locus. When compared with clinical data, the previously described coding single nucleotide polymorphisms (SNPs) at the BRIC4/XIAP locus (rs28382721, rs28382722, rs28382723, rs5956583, rs28382740, rs12838858, rs28382741) did not correlate with age of onset or clinical presentation in our collective. However, three previously unreported variants in the BIRC4/XIAP gene were identified (c.1-26 T > G; c.1408A > T; p.T470S; c.1019A > G; p.N340S). The two patients with variants leading to amino acid exchanges in the BIRC4/XIAP protein showed a remarkably early disease onset at the age of 5 years. Furthermore, one of these patients was only heterozygous for disease-causing mutations in the ATP7B gene. In summary, these data emphasize the need to further elucidate a role of BIRC4/XIAP variants as putative pathogenetic factors in copper overload disorders.
         datePublished:2010-06-02T00:00:00Z
         dateModified:2010-06-02T00:00:00Z
         pageStart:233
         pageEnd:240
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            Wilson Disease
            Menkes Disease
            ATP7B Gene
            Intracellular Copper
            Copper Overload
            Metabolic Diseases
            Human Genetics
            Pediatrics
            Internal Medicine
            Biochemistry
            general
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      headline:Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
      description:Wilson disease (WD) is an autosomal-recessive copper overload disorder caused by mutations in the copper-transporting adenosine triphosphatase (ATPase) ATP7B. It presents with a highly variable clinical phenotype ranging from asymptomatic to fulminant hepatic failure or progressive neurological involvement. No clear genotype–phenotype correlation has been established. Thus, variants in modifier genes could have an impact on WD manifestation and severity. Recently, the antiapoptotic protein baculoviral IAP repeat-containing protein 4 BIRC4/XIAP has been suggested as a regulator of copper-induced cell death. With the aim of investigating a putative role of BIRC4/XIAP as modifier gene in individuals with copper overload, we analyzed a WD patient cohort (n = 98) for sequence variants at the BIRC4/XIAP locus. When compared with clinical data, the previously described coding single nucleotide polymorphisms (SNPs) at the BRIC4/XIAP locus (rs28382721, rs28382722, rs28382723, rs5956583, rs28382740, rs12838858, rs28382741) did not correlate with age of onset or clinical presentation in our collective. However, three previously unreported variants in the BIRC4/XIAP gene were identified (c.1-26 T > G; c.1408A > T; p.T470S; c.1019A > G; p.N340S). The two patients with variants leading to amino acid exchanges in the BIRC4/XIAP protein showed a remarkably early disease onset at the age of 5 years. Furthermore, one of these patients was only heterozygous for disease-causing mutations in the ATP7B gene. In summary, these data emphasize the need to further elucidate a role of BIRC4/XIAP variants as putative pathogenetic factors in copper overload disorders.
      datePublished:2010-06-02T00:00:00Z
      dateModified:2010-06-02T00:00:00Z
      pageStart:233
      pageEnd:240
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      keywords:
         Wilson Disease
         Menkes Disease
         ATP7B Gene
         Intracellular Copper
         Copper Overload
         Metabolic Diseases
         Human Genetics
         Pediatrics
         Internal Medicine
         Biochemistry
         general
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