Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24
Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent cont...
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| creator | Ashraf, Shazia Hoskins, Bethan E. Chaib, Hassan Hoefele, Julia Pasch, Andreas Saisawat, Pawaree Trefz, Friedrich Hacker, Hans W. Nuernberg, Gudrun Nuernberg, Peter Otto, Edgar A. Hildebrandt, Friedhelm |
| description | Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT. Methods. Clinical data and blood samples were obtained from a Somalian family with eight individuals with CAKUT including high-grade vesicoureteral reflux and unilateral renal agenesis. Total genome search for linkage was performed using a 50K SNP Affymetric DNA microarray. As neither parent is affected, the results of the SNP array were analysed under recessive models of inheritance, with and without the assumption of consanguinity. Results. Using the non-consanguineous recessive model, a new gene locus (CAKUT1) for CAKUT was mapped to chromosome 8q24 with a significant maximum parametric Logarithm of the ODDs (LOD) score (LODmax) of 4.2. Recombinations were observed in two patients defining a critical genetic interval of 2.5 Mb physical distance flanked by markers SNP_A-1740062 and SNP_A-1653225. Conclusion. We have thus identified a new non-syndromic recessive gene locus for CAKUT (CAKUT1) on chromosome 8q24. The identification of the disease-causing gene will provide further insights into the pathogenesis of urinary tract malformations and mechanisms of renal development. |
| doi_str_mv | 10.1093/ndt/gfp650 |
| format | Article |
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Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT. Methods. Clinical data and blood samples were obtained from a Somalian family with eight individuals with CAKUT including high-grade vesicoureteral reflux and unilateral renal agenesis. Total genome search for linkage was performed using a 50K SNP Affymetric DNA microarray. As neither parent is affected, the results of the SNP array were analysed under recessive models of inheritance, with and without the assumption of consanguinity. Results. Using the non-consanguineous recessive model, a new gene locus (CAKUT1) for CAKUT was mapped to chromosome 8q24 with a significant maximum parametric Logarithm of the ODDs (LOD) score (LODmax) of 4.2. Recombinations were observed in two patients defining a critical genetic interval of 2.5 Mb physical distance flanked by markers SNP_A-1740062 and SNP_A-1653225. Conclusion. We have thus identified a new non-syndromic recessive gene locus for CAKUT (CAKUT1) on chromosome 8q24. The identification of the disease-causing gene will provide further insights into the pathogenesis of urinary tract malformations and mechanisms of renal development.</description><identifier>ISSN: 0931-0509</identifier><identifier>EISSN: 1460-2385</identifier><identifier>DOI: 10.1093/ndt/gfp650</identifier><identifier>PMID: 20007758</identifier><identifier>CODEN: NDTREA</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Bacterial diseases ; Bacterial diseases of the urinary system ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 8 ; Clinical Nephrology ; congenital anomalies of the kidney and urinary tract (CAKUT) ; Emergency and intensive care: renal failure. Dialysis management ; Female ; Haplotypes ; Human bacterial diseases ; Humans ; Infant ; Infant, Newborn ; Infectious diseases ; Intensive care medicine ; Kidney - abnormalities ; kidney development ; Lod Score ; Male ; Medical sciences ; Pedigree ; Polymorphism, Single Nucleotide ; total genome search for linkage ; ureteropelvic junction obstruction ; Urinary Tract - abnormalities ; vesicoureteral reflux</subject><ispartof>Nephrology, dialysis, transplantation, 2010-05, Vol.25 (5), p.1496-1501</ispartof><rights>2015 INIST-CNRS</rights><rights>The Author 2009. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org 2009 Oxford University Press</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c445t-f3a1f62664ca791d95f8702abcdcbe0cf11404c93598e6cbaa313ca097f22da43</citedby><cites>FETCH-LOGICAL-c445t-f3a1f62664ca791d95f8702abcdcbe0cf11404c93598e6cbaa313ca097f22da43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22788786$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20007758$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ashraf, Shazia</creatorcontrib><creatorcontrib>Hoskins, Bethan E.</creatorcontrib><creatorcontrib>Chaib, Hassan</creatorcontrib><creatorcontrib>Hoefele, Julia</creatorcontrib><creatorcontrib>Pasch, Andreas</creatorcontrib><creatorcontrib>Saisawat, Pawaree</creatorcontrib><creatorcontrib>Trefz, Friedrich</creatorcontrib><creatorcontrib>Hacker, Hans W.</creatorcontrib><creatorcontrib>Nuernberg, Gudrun</creatorcontrib><creatorcontrib>Nuernberg, Peter</creatorcontrib><creatorcontrib>Otto, Edgar A.</creatorcontrib><creatorcontrib>Hildebrandt, Friedhelm</creatorcontrib><title>Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24</title><title>Nephrology, dialysis, transplantation</title><addtitle>Nephrol Dial Transplant</addtitle><description>Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT. Methods. Clinical data and blood samples were obtained from a Somalian family with eight individuals with CAKUT including high-grade vesicoureteral reflux and unilateral renal agenesis. Total genome search for linkage was performed using a 50K SNP Affymetric DNA microarray. As neither parent is affected, the results of the SNP array were analysed under recessive models of inheritance, with and without the assumption of consanguinity. Results. Using the non-consanguineous recessive model, a new gene locus (CAKUT1) for CAKUT was mapped to chromosome 8q24 with a significant maximum parametric Logarithm of the ODDs (LOD) score (LODmax) of 4.2. Recombinations were observed in two patients defining a critical genetic interval of 2.5 Mb physical distance flanked by markers SNP_A-1740062 and SNP_A-1653225. Conclusion. We have thus identified a new non-syndromic recessive gene locus for CAKUT (CAKUT1) on chromosome 8q24. The identification of the disease-causing gene will provide further insights into the pathogenesis of urinary tract malformations and mechanisms of renal development.</description><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Bacterial diseases</subject><subject>Bacterial diseases of the urinary system</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 8</subject><subject>Clinical Nephrology</subject><subject>congenital anomalies of the kidney and urinary tract (CAKUT)</subject><subject>Emergency and intensive care: renal failure. Dialysis management</subject><subject>Female</subject><subject>Haplotypes</subject><subject>Human bacterial diseases</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infectious diseases</subject><subject>Intensive care medicine</subject><subject>Kidney - abnormalities</subject><subject>kidney development</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>Polymorphism, Single Nucleotide</subject><subject>total genome search for linkage</subject><subject>ureteropelvic junction obstruction</subject><subject>Urinary Tract - abnormalities</subject><subject>vesicoureteral reflux</subject><issn>0931-0509</issn><issn>1460-2385</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkUGLFDEQhYMo7rh68QdILiII7VaS7k7nIsigrrCLFwXZS6hOJzNxu5PZpFvdf2-GGUc9VVHv49WDR8hzBm8YKHERhvli43ZtAw_IitUtVFx0zUOyKiKroAF1Rp7k_B0AFJfyMTnjZZWy6Vakv8bdzocNjY4iDfYnHaNZMnUxURPDxgY_40gxxAlHb_Oem7eW3voh2PtyH-iSfMB0T-eEZqYxULNNcYo5TpZ2d7x-Sh45HLN9dpzn5OuH91_Wl9XV54-f1u-uKlPXzVw5gcy1vG1rg1KxQTWuk8CxN4PpLRjHWA21UaJRnW1NjyiYMAhKOs4HrMU5eXvw3S39ZAdjQ0k06l3yU4mnI3r9vxL8Vm_iD80VAyGgGLw6GqR4t9g868lnY8cRg41L1lKITnUAbSFfH0iTYs7JutMXBnrfiS6d6EMnBX7xb64T-qeEArw8ApgNji5hMD7_5bjsOtntv1YHzufZ_jrpmG51K4Vs9OW3G329BqVuoNFc_AYF06Yj</recordid><startdate>20100501</startdate><enddate>20100501</enddate><creator>Ashraf, Shazia</creator><creator>Hoskins, Bethan E.</creator><creator>Chaib, Hassan</creator><creator>Hoefele, Julia</creator><creator>Pasch, Andreas</creator><creator>Saisawat, Pawaree</creator><creator>Trefz, Friedrich</creator><creator>Hacker, Hans W.</creator><creator>Nuernberg, Gudrun</creator><creator>Nuernberg, Peter</creator><creator>Otto, Edgar A.</creator><creator>Hildebrandt, Friedhelm</creator><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20100501</creationdate><title>Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24</title><author>Ashraf, Shazia ; Hoskins, Bethan E. ; Chaib, Hassan ; Hoefele, Julia ; Pasch, Andreas ; Saisawat, Pawaree ; Trefz, Friedrich ; Hacker, Hans W. ; Nuernberg, Gudrun ; Nuernberg, Peter ; Otto, Edgar A. ; Hildebrandt, Friedhelm</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c445t-f3a1f62664ca791d95f8702abcdcbe0cf11404c93598e6cbaa313ca097f22da43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</topic><topic>Bacterial diseases</topic><topic>Bacterial diseases of the urinary system</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 8</topic><topic>Clinical Nephrology</topic><topic>congenital anomalies of the kidney and urinary tract (CAKUT)</topic><topic>Emergency and intensive care: renal failure. Dialysis management</topic><topic>Female</topic><topic>Haplotypes</topic><topic>Human bacterial diseases</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infectious diseases</topic><topic>Intensive care medicine</topic><topic>Kidney - abnormalities</topic><topic>kidney development</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>Polymorphism, Single Nucleotide</topic><topic>total genome search for linkage</topic><topic>ureteropelvic junction obstruction</topic><topic>Urinary Tract - abnormalities</topic><topic>vesicoureteral reflux</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ashraf, Shazia</creatorcontrib><creatorcontrib>Hoskins, Bethan E.</creatorcontrib><creatorcontrib>Chaib, Hassan</creatorcontrib><creatorcontrib>Hoefele, Julia</creatorcontrib><creatorcontrib>Pasch, Andreas</creatorcontrib><creatorcontrib>Saisawat, Pawaree</creatorcontrib><creatorcontrib>Trefz, Friedrich</creatorcontrib><creatorcontrib>Hacker, Hans W.</creatorcontrib><creatorcontrib>Nuernberg, Gudrun</creatorcontrib><creatorcontrib>Nuernberg, Peter</creatorcontrib><creatorcontrib>Otto, Edgar A.</creatorcontrib><creatorcontrib>Hildebrandt, Friedhelm</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Nephrology, dialysis, transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ashraf, Shazia</au><au>Hoskins, Bethan E.</au><au>Chaib, Hassan</au><au>Hoefele, Julia</au><au>Pasch, Andreas</au><au>Saisawat, Pawaree</au><au>Trefz, Friedrich</au><au>Hacker, Hans W.</au><au>Nuernberg, Gudrun</au><au>Nuernberg, Peter</au><au>Otto, Edgar A.</au><au>Hildebrandt, Friedhelm</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24</atitle><jtitle>Nephrology, dialysis, transplantation</jtitle><addtitle>Nephrol Dial Transplant</addtitle><date>2010-05-01</date><risdate>2010</risdate><volume>25</volume><issue>5</issue><spage>1496</spage><epage>1501</epage><pages>1496-1501</pages><issn>0931-0509</issn><eissn>1460-2385</eissn><coden>NDTREA</coden><abstract>Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT. Methods. Clinical data and blood samples were obtained from a Somalian family with eight individuals with CAKUT including high-grade vesicoureteral reflux and unilateral renal agenesis. Total genome search for linkage was performed using a 50K SNP Affymetric DNA microarray. As neither parent is affected, the results of the SNP array were analysed under recessive models of inheritance, with and without the assumption of consanguinity. Results. Using the non-consanguineous recessive model, a new gene locus (CAKUT1) for CAKUT was mapped to chromosome 8q24 with a significant maximum parametric Logarithm of the ODDs (LOD) score (LODmax) of 4.2. Recombinations were observed in two patients defining a critical genetic interval of 2.5 Mb physical distance flanked by markers SNP_A-1740062 and SNP_A-1653225. Conclusion. We have thus identified a new non-syndromic recessive gene locus for CAKUT (CAKUT1) on chromosome 8q24. The identification of the disease-causing gene will provide further insights into the pathogenesis of urinary tract malformations and mechanisms of renal development.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>20007758</pmid><doi>10.1093/ndt/gfp650</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Bacterial diseases Bacterial diseases of the urinary system Biological and medical sciences Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 8 Clinical Nephrology congenital anomalies of the kidney and urinary tract (CAKUT) Emergency and intensive care: renal failure. Dialysis management Female Haplotypes Human bacterial diseases Humans Infant Infant, Newborn Infectious diseases Intensive care medicine Kidney - abnormalities kidney development Lod Score Male Medical sciences Pedigree Polymorphism, Single Nucleotide total genome search for linkage ureteropelvic junction obstruction Urinary Tract - abnormalities vesicoureteral reflux |
| title | Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 |
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