Gene locus ambiguity in posterior urethral valves/prune-belly syndrome

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dc.contributor.authorWeber, S
dc.contributor.authorMir, S
dc.contributor.authorSchlingmann, KP
dc.contributor.authorNurnberg, G
dc.contributor.authorBecker, C
dc.contributor.authorKara, PE
dc.contributor.authorOzkayin, N
dc.contributor.authorKonrad, M
dc.contributor.authorNurnberg, P
dc.contributor.authorSchaefer, F
dc.date.accessioned2019-10-27T19:24:09Z
dc.date.available2019-10-27T19:24:09Z
dc.date.issued2005
dc.departmentEge Üniversitesien_US
dc.description.abstractLower urinary tract obstruction by posterior urethral valves (PUV) is an important cause of congenital renal failure in male infants. Though population-based studies point to a role of genetic factors in the etiology of PUV, no clear evidence for a specific gene defect for PUV has been observed so far. Here we present a consanguineous family with four male descendants affected by PUV and a healthy girl, suggestive of autosomal recessive inheritance. One boy presented with prune-belly syndrome (PBS) in addition to PUV. Using a DNA chip-based genome-wide linkage analysis, we identified a region of homozygosity for the affected boys in an interval of 35 cM on chromosome 1q41-44 with a maximum multipoint LOD score of Z(max)=3.134 at theta=0 for single nucleotide polymorphisms (SNPs) rs158724-rs720163. By applying a second genetic model based on the assumption of a male-limited phenotype and the girl being carrier of the genetic defect without expressing the phenotype, a second alternative locus of 9 cM on chromosome 11p11 was identified with a LOD score of Z(max)=3.61 at theta=0. Equal significance for both loci with a LOD score of Z(max)=3.01 at theta = 0 was obtained after the affection status of the female descendant was set "unknown". We suppose that most probably, only one of the two identified loci harbours the disease-causing gene. As the interpretation of the girl's status remains uncertain, we are not able to exclude one of the two loci. Analyses of additional informative families will be important to exclude one of the two loci and to restrict the critical interval.en_US
dc.identifier.doi10.1007/s00467-005-1977-7en_US
dc.identifier.endpage1042en_US
dc.identifier.issn0931-041X
dc.identifier.issue8en_US
dc.identifier.pmid15912376en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1036en_US
dc.identifier.urihttps://doi.org/10.1007/s00467-005-1977-7
dc.identifier.urihttps://hdl.handle.net/11454/39251
dc.identifier.volume20en_US
dc.identifier.wosWOS:000230353300002en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofPediatric Nephrologyen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectposterior urethral valvesen_US
dc.subjectPUVen_US
dc.subjectprune-belly syndromeen_US
dc.subjectlinkage analysisen_US
dc.subjectmappingen_US
dc.subjectautosomal recessive inheritanceen_US
dc.subjectmale-limited phenotypeen_US
dc.titleGene locus ambiguity in posterior urethral valves/prune-belly syndromeen_US
dc.typeEditorialen_US

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