Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient
Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal al...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Caciotti, Anna [verfasserIn] Bardelli, Tiziana [verfasserIn] Cunningham, John [verfasserIn] D'Azzo, Alessandra [verfasserIn] Zammarchi, Enrico [verfasserIn] Morrone, Amelia [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2003 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Human genetics |
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| Übergeordnetes Werk: |
volume:113 ; year:2003 ; number:1 ; day:19 ; month:03 ; pages:44-50 |
| Links: |
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| DOI / URN: |
10.1007/s00439-003-0930-8 |
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SPR00622329X |
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| 245 | 1 | 0 | |a Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient |
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| 520 | |a Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. | ||
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| 650 | 4 | |a Elastin Binding Protein |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a GLB1 Gene |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Bardelli, Tiziana |e verfasserin |4 aut | |
| 700 | 1 | |a Cunningham, John |e verfasserin |4 aut | |
| 700 | 1 | |a D'Azzo, Alessandra |e verfasserin |4 aut | |
| 700 | 1 | |a Zammarchi, Enrico |e verfasserin |4 aut | |
| 700 | 1 | |a Morrone, Amelia |e verfasserin |4 aut | |
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10.1007/s00439-003-0930-8 doi (DE-627)SPR00622329X (SPR)s00439-003-0930-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Caciotti, Anna verfasserin aut Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. Genetic Lesion (dpeaa)DE-He213 R201C Mutation (dpeaa)DE-He213 Complex Allele (dpeaa)DE-He213 Elastin Binding Protein (dpeaa)DE-He213 GLB1 Gene (dpeaa)DE-He213 Bardelli, Tiziana verfasserin aut Cunningham, John verfasserin aut D'Azzo, Alessandra verfasserin aut Zammarchi, Enrico verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 113(2003), 1 vom: 19. März, Seite 44-50 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:113 year:2003 number:1 day:19 month:03 pages:44-50 https://dx.doi.org/10.1007/s00439-003-0930-8 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_65 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_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_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_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 44.48 ASE AR 113 2003 1 19 03 44-50 |
| spelling |
10.1007/s00439-003-0930-8 doi (DE-627)SPR00622329X (SPR)s00439-003-0930-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Caciotti, Anna verfasserin aut Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. Genetic Lesion (dpeaa)DE-He213 R201C Mutation (dpeaa)DE-He213 Complex Allele (dpeaa)DE-He213 Elastin Binding Protein (dpeaa)DE-He213 GLB1 Gene (dpeaa)DE-He213 Bardelli, Tiziana verfasserin aut Cunningham, John verfasserin aut D'Azzo, Alessandra verfasserin aut Zammarchi, Enrico verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 113(2003), 1 vom: 19. März, Seite 44-50 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:113 year:2003 number:1 day:19 month:03 pages:44-50 https://dx.doi.org/10.1007/s00439-003-0930-8 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_65 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_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_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_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 44.48 ASE AR 113 2003 1 19 03 44-50 |
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10.1007/s00439-003-0930-8 doi (DE-627)SPR00622329X (SPR)s00439-003-0930-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Caciotti, Anna verfasserin aut Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. Genetic Lesion (dpeaa)DE-He213 R201C Mutation (dpeaa)DE-He213 Complex Allele (dpeaa)DE-He213 Elastin Binding Protein (dpeaa)DE-He213 GLB1 Gene (dpeaa)DE-He213 Bardelli, Tiziana verfasserin aut Cunningham, John verfasserin aut D'Azzo, Alessandra verfasserin aut Zammarchi, Enrico verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 113(2003), 1 vom: 19. März, Seite 44-50 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:113 year:2003 number:1 day:19 month:03 pages:44-50 https://dx.doi.org/10.1007/s00439-003-0930-8 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_65 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_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_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_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 44.48 ASE AR 113 2003 1 19 03 44-50 |
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10.1007/s00439-003-0930-8 doi (DE-627)SPR00622329X (SPR)s00439-003-0930-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Caciotti, Anna verfasserin aut Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. Genetic Lesion (dpeaa)DE-He213 R201C Mutation (dpeaa)DE-He213 Complex Allele (dpeaa)DE-He213 Elastin Binding Protein (dpeaa)DE-He213 GLB1 Gene (dpeaa)DE-He213 Bardelli, Tiziana verfasserin aut Cunningham, John verfasserin aut D'Azzo, Alessandra verfasserin aut Zammarchi, Enrico verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 113(2003), 1 vom: 19. März, Seite 44-50 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:113 year:2003 number:1 day:19 month:03 pages:44-50 https://dx.doi.org/10.1007/s00439-003-0930-8 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_65 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_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_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_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 44.48 ASE AR 113 2003 1 19 03 44-50 |
| allfieldsSound |
10.1007/s00439-003-0930-8 doi (DE-627)SPR00622329X (SPR)s00439-003-0930-8-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Caciotti, Anna verfasserin aut Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. Genetic Lesion (dpeaa)DE-He213 R201C Mutation (dpeaa)DE-He213 Complex Allele (dpeaa)DE-He213 Elastin Binding Protein (dpeaa)DE-He213 GLB1 Gene (dpeaa)DE-He213 Bardelli, Tiziana verfasserin aut Cunningham, John verfasserin aut D'Azzo, Alessandra verfasserin aut Zammarchi, Enrico verfasserin aut Morrone, Amelia verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 113(2003), 1 vom: 19. März, Seite 44-50 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:113 year:2003 number:1 day:19 month:03 pages:44-50 https://dx.doi.org/10.1007/s00439-003-0930-8 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_65 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_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_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_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 44.48 ASE AR 113 2003 1 19 03 44-50 |
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Enthalten in Human genetics <Berlin> 113(2003), 1 vom: 19. März, Seite 44-50 volume:113 year:2003 number:1 day:19 month:03 pages:44-50 |
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Enthalten in Human genetics <Berlin> 113(2003), 1 vom: 19. März, Seite 44-50 volume:113 year:2003 number:1 day:19 month:03 pages:44-50 |
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Genetic Lesion R201C Mutation Complex Allele Elastin Binding Protein GLB1 Gene |
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Human genetics <Berlin> |
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Caciotti, Anna @@aut@@ Bardelli, Tiziana @@aut@@ Cunningham, John @@aut@@ D'Azzo, Alessandra @@aut@@ Zammarchi, Enrico @@aut@@ Morrone, Amelia @@aut@@ |
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Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. 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Caciotti, Anna |
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Caciotti, Anna ddc 610 bkl 44.48 misc Genetic Lesion misc R201C Mutation misc Complex Allele misc Elastin Binding Protein misc GLB1 Gene Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient |
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610 ASE 44.48 bkl Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient Genetic Lesion (dpeaa)DE-He213 R201C Mutation (dpeaa)DE-He213 Complex Allele (dpeaa)DE-He213 Elastin Binding Protein (dpeaa)DE-He213 GLB1 Gene (dpeaa)DE-He213 |
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Caciotti, Anna Bardelli, Tiziana Cunningham, John D'Azzo, Alessandra Zammarchi, Enrico Morrone, Amelia |
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Caciotti, Anna |
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modulating action of the new polymorphism l436f detected in the glb1 gene of a type-ii gm1 gangliosidosis patient |
| title_auth |
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient |
| abstract |
Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. |
| abstractGer |
Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. |
| abstract_unstemmed |
Abstract We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders. |
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Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient |
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| score |
7.4014387 |