Gene locus ambiguity in posterior urethral valves/prune-belly syndrome
Abstract Lower 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 obse...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Weber, Stefanie [verfasserIn] Mir, Sevgi [verfasserIn] Schlingmann, Karl Peter [verfasserIn] Nürnberg, Gudrun [verfasserIn] Becker, Christian [verfasserIn] Kara, Pelin E. [verfasserIn] Ozkayin, Nese [verfasserIn] Konrad, Martin [verfasserIn] Nürnberg, Peter [verfasserIn] Schaefer, Franz [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2005 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Pediatric nephrology - Berlin : Springer, 1987, 20(2005), 8 vom: 24. Mai, Seite 1036-1042 |
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| Übergeordnetes Werk: |
volume:20 ; year:2005 ; number:8 ; day:24 ; month:05 ; pages:1036-1042 |
| Links: |
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| DOI / URN: |
10.1007/s00467-005-1977-7 |
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| Katalog-ID: |
SPR006702171 |
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| 100 | 1 | |a Weber, Stefanie |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
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| 520 | |a Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. | ||
| 650 | 4 | |a Posterior urethral valves |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a PUV |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Prune-belly syndrome |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Linkage analysis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Mapping |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Autosomal recessive inheritance |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Male-limited phenotype |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Mir, Sevgi |e verfasserin |4 aut | |
| 700 | 1 | |a Schlingmann, Karl Peter |e verfasserin |4 aut | |
| 700 | 1 | |a Nürnberg, Gudrun |e verfasserin |4 aut | |
| 700 | 1 | |a Becker, Christian |e verfasserin |4 aut | |
| 700 | 1 | |a Kara, Pelin E. |e verfasserin |4 aut | |
| 700 | 1 | |a Ozkayin, Nese |e verfasserin |4 aut | |
| 700 | 1 | |a Konrad, Martin |e verfasserin |4 aut | |
| 700 | 1 | |a Nürnberg, Peter |e verfasserin |4 aut | |
| 700 | 1 | |a Schaefer, Franz |e verfasserin |4 aut | |
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| 912 | |a GBV_ILN_2056 | ||
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| 912 | |a GBV_ILN_2088 | ||
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| 912 | |a GBV_ILN_2106 | ||
| 912 | |a GBV_ILN_2107 | ||
| 912 | |a GBV_ILN_2108 | ||
| 912 | |a GBV_ILN_2110 | ||
| 912 | |a GBV_ILN_2111 | ||
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| 912 | |a GBV_ILN_2188 | ||
| 912 | |a GBV_ILN_2190 | ||
| 912 | |a GBV_ILN_2232 | ||
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| allfields |
10.1007/s00467-005-1977-7 doi (DE-627)SPR006702171 (SPR)s00467-005-1977-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.88 bkl 44.67 bkl Weber, Stefanie verfasserin aut Gene locus ambiguity in posterior urethral valves/prune-belly syndrome 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. Posterior urethral valves (dpeaa)DE-He213 PUV (dpeaa)DE-He213 Prune-belly syndrome (dpeaa)DE-He213 Linkage analysis (dpeaa)DE-He213 Mapping (dpeaa)DE-He213 Autosomal recessive inheritance (dpeaa)DE-He213 Male-limited phenotype (dpeaa)DE-He213 Mir, Sevgi verfasserin aut Schlingmann, Karl Peter verfasserin aut Nürnberg, Gudrun verfasserin aut Becker, Christian verfasserin aut Kara, Pelin E. verfasserin aut Ozkayin, Nese verfasserin aut Konrad, Martin verfasserin aut Nürnberg, Peter verfasserin aut Schaefer, Franz verfasserin aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 20(2005), 8 vom: 24. Mai, Seite 1036-1042 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 https://dx.doi.org/10.1007/s00467-005-1977-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.88 ASE 44.67 ASE AR 20 2005 8 24 05 1036-1042 |
| spelling |
10.1007/s00467-005-1977-7 doi (DE-627)SPR006702171 (SPR)s00467-005-1977-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.88 bkl 44.67 bkl Weber, Stefanie verfasserin aut Gene locus ambiguity in posterior urethral valves/prune-belly syndrome 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. Posterior urethral valves (dpeaa)DE-He213 PUV (dpeaa)DE-He213 Prune-belly syndrome (dpeaa)DE-He213 Linkage analysis (dpeaa)DE-He213 Mapping (dpeaa)DE-He213 Autosomal recessive inheritance (dpeaa)DE-He213 Male-limited phenotype (dpeaa)DE-He213 Mir, Sevgi verfasserin aut Schlingmann, Karl Peter verfasserin aut Nürnberg, Gudrun verfasserin aut Becker, Christian verfasserin aut Kara, Pelin E. verfasserin aut Ozkayin, Nese verfasserin aut Konrad, Martin verfasserin aut Nürnberg, Peter verfasserin aut Schaefer, Franz verfasserin aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 20(2005), 8 vom: 24. Mai, Seite 1036-1042 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 https://dx.doi.org/10.1007/s00467-005-1977-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.88 ASE 44.67 ASE AR 20 2005 8 24 05 1036-1042 |
| allfields_unstemmed |
10.1007/s00467-005-1977-7 doi (DE-627)SPR006702171 (SPR)s00467-005-1977-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.88 bkl 44.67 bkl Weber, Stefanie verfasserin aut Gene locus ambiguity in posterior urethral valves/prune-belly syndrome 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. Posterior urethral valves (dpeaa)DE-He213 PUV (dpeaa)DE-He213 Prune-belly syndrome (dpeaa)DE-He213 Linkage analysis (dpeaa)DE-He213 Mapping (dpeaa)DE-He213 Autosomal recessive inheritance (dpeaa)DE-He213 Male-limited phenotype (dpeaa)DE-He213 Mir, Sevgi verfasserin aut Schlingmann, Karl Peter verfasserin aut Nürnberg, Gudrun verfasserin aut Becker, Christian verfasserin aut Kara, Pelin E. verfasserin aut Ozkayin, Nese verfasserin aut Konrad, Martin verfasserin aut Nürnberg, Peter verfasserin aut Schaefer, Franz verfasserin aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 20(2005), 8 vom: 24. Mai, Seite 1036-1042 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 https://dx.doi.org/10.1007/s00467-005-1977-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.88 ASE 44.67 ASE AR 20 2005 8 24 05 1036-1042 |
| allfieldsGer |
10.1007/s00467-005-1977-7 doi (DE-627)SPR006702171 (SPR)s00467-005-1977-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.88 bkl 44.67 bkl Weber, Stefanie verfasserin aut Gene locus ambiguity in posterior urethral valves/prune-belly syndrome 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. Posterior urethral valves (dpeaa)DE-He213 PUV (dpeaa)DE-He213 Prune-belly syndrome (dpeaa)DE-He213 Linkage analysis (dpeaa)DE-He213 Mapping (dpeaa)DE-He213 Autosomal recessive inheritance (dpeaa)DE-He213 Male-limited phenotype (dpeaa)DE-He213 Mir, Sevgi verfasserin aut Schlingmann, Karl Peter verfasserin aut Nürnberg, Gudrun verfasserin aut Becker, Christian verfasserin aut Kara, Pelin E. verfasserin aut Ozkayin, Nese verfasserin aut Konrad, Martin verfasserin aut Nürnberg, Peter verfasserin aut Schaefer, Franz verfasserin aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 20(2005), 8 vom: 24. Mai, Seite 1036-1042 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 https://dx.doi.org/10.1007/s00467-005-1977-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.88 ASE 44.67 ASE AR 20 2005 8 24 05 1036-1042 |
| allfieldsSound |
10.1007/s00467-005-1977-7 doi (DE-627)SPR006702171 (SPR)s00467-005-1977-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.88 bkl 44.67 bkl Weber, Stefanie verfasserin aut Gene locus ambiguity in posterior urethral valves/prune-belly syndrome 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. Posterior urethral valves (dpeaa)DE-He213 PUV (dpeaa)DE-He213 Prune-belly syndrome (dpeaa)DE-He213 Linkage analysis (dpeaa)DE-He213 Mapping (dpeaa)DE-He213 Autosomal recessive inheritance (dpeaa)DE-He213 Male-limited phenotype (dpeaa)DE-He213 Mir, Sevgi verfasserin aut Schlingmann, Karl Peter verfasserin aut Nürnberg, Gudrun verfasserin aut Becker, Christian verfasserin aut Kara, Pelin E. verfasserin aut Ozkayin, Nese verfasserin aut Konrad, Martin verfasserin aut Nürnberg, Peter verfasserin aut Schaefer, Franz verfasserin aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 20(2005), 8 vom: 24. Mai, Seite 1036-1042 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 https://dx.doi.org/10.1007/s00467-005-1977-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.88 ASE 44.67 ASE AR 20 2005 8 24 05 1036-1042 |
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Enthalten in Pediatric nephrology 20(2005), 8 vom: 24. Mai, Seite 1036-1042 volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 |
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Enthalten in Pediatric nephrology 20(2005), 8 vom: 24. Mai, Seite 1036-1042 volume:20 year:2005 number:8 day:24 month:05 pages:1036-1042 |
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findex.gbv.de |
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Posterior urethral valves PUV Prune-belly syndrome Linkage analysis Mapping Autosomal recessive inheritance Male-limited phenotype |
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610 |
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Pediatric nephrology |
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Weber, Stefanie @@aut@@ Mir, Sevgi @@aut@@ Schlingmann, Karl Peter @@aut@@ Nürnberg, Gudrun @@aut@@ Becker, Christian @@aut@@ Kara, Pelin E. @@aut@@ Ozkayin, Nese @@aut@@ Konrad, Martin @@aut@@ Nürnberg, Peter @@aut@@ Schaefer, Franz @@aut@@ |
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2005-05-24T00:00:00Z |
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|
| author |
Weber, Stefanie |
| spellingShingle |
Weber, Stefanie ddc 610 bkl 44.88 bkl 44.67 misc Posterior urethral valves misc PUV misc Prune-belly syndrome misc Linkage analysis misc Mapping misc Autosomal recessive inheritance misc Male-limited phenotype Gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
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| topic_title |
610 ASE 44.88 bkl 44.67 bkl Gene locus ambiguity in posterior urethral valves/prune-belly syndrome Posterior urethral valves (dpeaa)DE-He213 PUV (dpeaa)DE-He213 Prune-belly syndrome (dpeaa)DE-He213 Linkage analysis (dpeaa)DE-He213 Mapping (dpeaa)DE-He213 Autosomal recessive inheritance (dpeaa)DE-He213 Male-limited phenotype (dpeaa)DE-He213 |
| topic |
ddc 610 bkl 44.88 bkl 44.67 misc Posterior urethral valves misc PUV misc Prune-belly syndrome misc Linkage analysis misc Mapping misc Autosomal recessive inheritance misc Male-limited phenotype |
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ddc 610 bkl 44.88 bkl 44.67 misc Posterior urethral valves misc PUV misc Prune-belly syndrome misc Linkage analysis misc Mapping misc Autosomal recessive inheritance misc Male-limited phenotype |
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ddc 610 bkl 44.88 bkl 44.67 misc Posterior urethral valves misc PUV misc Prune-belly syndrome misc Linkage analysis misc Mapping misc Autosomal recessive inheritance misc Male-limited phenotype |
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Pediatric nephrology |
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Gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
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Gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
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Weber, Stefanie |
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Pediatric nephrology |
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Weber, Stefanie Mir, Sevgi Schlingmann, Karl Peter Nürnberg, Gudrun Becker, Christian Kara, Pelin E. Ozkayin, Nese Konrad, Martin Nürnberg, Peter Schaefer, Franz |
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Weber, Stefanie |
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verfasserin |
| title_sort |
gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
| title_auth |
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
| abstract |
Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. |
| abstractGer |
Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. |
| abstract_unstemmed |
Abstract Lower 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 θ=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 θ=0. Equal significance for both loci with a LOD score of $ Z_{max} $=3.01 at θ = 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. |
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| container_issue |
8 |
| title_short |
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome |
| url |
https://dx.doi.org/10.1007/s00467-005-1977-7 |
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| author2 |
Mir, Sevgi Schlingmann, Karl Peter Nürnberg, Gudrun Becker, Christian Kara, Pelin E. Ozkayin, Nese Konrad, Martin Nürnberg, Peter Schaefer, Franz |
| author2Str |
Mir, Sevgi Schlingmann, Karl Peter Nürnberg, Gudrun Becker, Christian Kara, Pelin E. Ozkayin, Nese Konrad, Martin Nürnberg, Peter Schaefer, Franz |
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| doi_str |
10.1007/s00467-005-1977-7 |
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2024-07-04T00:16:28.338Z |
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| score |
7.4007597 |