Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Araujo, Thaís Fenz [verfasserIn] Ribeiro, Erlane Marques [verfasserIn] Arruda, Anderson Pontes [verfasserIn] Moreno, Carolina Araujo [verfasserIn] de Medeiros, Paula Frassinetti Vasconcelos [verfasserIn] Minillo, Renata Moldenhauer [verfasserIn] Melo, Débora Gusmão [verfasserIn] Kim, Chong Ae [verfasserIn] Doriqui, Maria Juliana Rodovalho [verfasserIn] Felix, Têmis Maria [verfasserIn] Fock, Rodrigo Ambrosio [verfasserIn] Cavalcanti, Denise Pontes [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Übergeordnetes Werk: |
Enthalten in: European journal of medical research - London : BioMed Central, 2000, 21(2016), 1 vom: 24. Aug. |
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| Übergeordnetes Werk: |
volume:21 ; year:2016 ; number:1 ; day:24 ; month:08 |
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| DOI / URN: |
10.1186/s40001-016-0228-7 |
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| Katalog-ID: |
SPR032597207 |
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| 245 | 1 | 0 | |a Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region |
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| 520 | |a Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. | ||
| 650 | 4 | |a Pycnodysostosis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Cathepsin K |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Inbreeding |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Novel mutation |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Ribeiro, Erlane Marques |e verfasserin |4 aut | |
| 700 | 1 | |a Arruda, Anderson Pontes |e verfasserin |4 aut | |
| 700 | 1 | |a Moreno, Carolina Araujo |e verfasserin |4 aut | |
| 700 | 1 | |a de Medeiros, Paula Frassinetti Vasconcelos |e verfasserin |4 aut | |
| 700 | 1 | |a Minillo, Renata Moldenhauer |e verfasserin |4 aut | |
| 700 | 1 | |a Melo, Débora Gusmão |e verfasserin |4 aut | |
| 700 | 1 | |a Kim, Chong Ae |e verfasserin |4 aut | |
| 700 | 1 | |a Doriqui, Maria Juliana Rodovalho |e verfasserin |4 aut | |
| 700 | 1 | |a Felix, Têmis Maria |e verfasserin |4 aut | |
| 700 | 1 | |a Fock, Rodrigo Ambrosio |e verfasserin |4 aut | |
| 700 | 1 | |a Cavalcanti, Denise Pontes |e verfasserin |4 aut | |
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10.1186/s40001-016-0228-7 doi (DE-627)SPR032597207 (SPR)s40001-016-0228-7-e DE-627 ger DE-627 rakwb eng 610 ASE Araujo, Thaís Fenz verfasserin aut Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. Pycnodysostosis (dpeaa)DE-He213 Cathepsin K (dpeaa)DE-He213 Inbreeding (dpeaa)DE-He213 Novel mutation (dpeaa)DE-He213 Ribeiro, Erlane Marques verfasserin aut Arruda, Anderson Pontes verfasserin aut Moreno, Carolina Araujo verfasserin aut de Medeiros, Paula Frassinetti Vasconcelos verfasserin aut Minillo, Renata Moldenhauer verfasserin aut Melo, Débora Gusmão verfasserin aut Kim, Chong Ae verfasserin aut Doriqui, Maria Juliana Rodovalho verfasserin aut Felix, Têmis Maria verfasserin aut Fock, Rodrigo Ambrosio verfasserin aut Cavalcanti, Denise Pontes verfasserin aut Enthalten in European journal of medical research London : BioMed Central, 2000 21(2016), 1 vom: 24. Aug. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:21 year:2016 number:1 day:24 month:08 https://dx.doi.org/10.1186/s40001-016-0228-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2016 1 24 08 |
| spelling |
10.1186/s40001-016-0228-7 doi (DE-627)SPR032597207 (SPR)s40001-016-0228-7-e DE-627 ger DE-627 rakwb eng 610 ASE Araujo, Thaís Fenz verfasserin aut Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. Pycnodysostosis (dpeaa)DE-He213 Cathepsin K (dpeaa)DE-He213 Inbreeding (dpeaa)DE-He213 Novel mutation (dpeaa)DE-He213 Ribeiro, Erlane Marques verfasserin aut Arruda, Anderson Pontes verfasserin aut Moreno, Carolina Araujo verfasserin aut de Medeiros, Paula Frassinetti Vasconcelos verfasserin aut Minillo, Renata Moldenhauer verfasserin aut Melo, Débora Gusmão verfasserin aut Kim, Chong Ae verfasserin aut Doriqui, Maria Juliana Rodovalho verfasserin aut Felix, Têmis Maria verfasserin aut Fock, Rodrigo Ambrosio verfasserin aut Cavalcanti, Denise Pontes verfasserin aut Enthalten in European journal of medical research London : BioMed Central, 2000 21(2016), 1 vom: 24. Aug. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:21 year:2016 number:1 day:24 month:08 https://dx.doi.org/10.1186/s40001-016-0228-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2016 1 24 08 |
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10.1186/s40001-016-0228-7 doi (DE-627)SPR032597207 (SPR)s40001-016-0228-7-e DE-627 ger DE-627 rakwb eng 610 ASE Araujo, Thaís Fenz verfasserin aut Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. Pycnodysostosis (dpeaa)DE-He213 Cathepsin K (dpeaa)DE-He213 Inbreeding (dpeaa)DE-He213 Novel mutation (dpeaa)DE-He213 Ribeiro, Erlane Marques verfasserin aut Arruda, Anderson Pontes verfasserin aut Moreno, Carolina Araujo verfasserin aut de Medeiros, Paula Frassinetti Vasconcelos verfasserin aut Minillo, Renata Moldenhauer verfasserin aut Melo, Débora Gusmão verfasserin aut Kim, Chong Ae verfasserin aut Doriqui, Maria Juliana Rodovalho verfasserin aut Felix, Têmis Maria verfasserin aut Fock, Rodrigo Ambrosio verfasserin aut Cavalcanti, Denise Pontes verfasserin aut Enthalten in European journal of medical research London : BioMed Central, 2000 21(2016), 1 vom: 24. Aug. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:21 year:2016 number:1 day:24 month:08 https://dx.doi.org/10.1186/s40001-016-0228-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2016 1 24 08 |
| allfieldsGer |
10.1186/s40001-016-0228-7 doi (DE-627)SPR032597207 (SPR)s40001-016-0228-7-e DE-627 ger DE-627 rakwb eng 610 ASE Araujo, Thaís Fenz verfasserin aut Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. Pycnodysostosis (dpeaa)DE-He213 Cathepsin K (dpeaa)DE-He213 Inbreeding (dpeaa)DE-He213 Novel mutation (dpeaa)DE-He213 Ribeiro, Erlane Marques verfasserin aut Arruda, Anderson Pontes verfasserin aut Moreno, Carolina Araujo verfasserin aut de Medeiros, Paula Frassinetti Vasconcelos verfasserin aut Minillo, Renata Moldenhauer verfasserin aut Melo, Débora Gusmão verfasserin aut Kim, Chong Ae verfasserin aut Doriqui, Maria Juliana Rodovalho verfasserin aut Felix, Têmis Maria verfasserin aut Fock, Rodrigo Ambrosio verfasserin aut Cavalcanti, Denise Pontes verfasserin aut Enthalten in European journal of medical research London : BioMed Central, 2000 21(2016), 1 vom: 24. Aug. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:21 year:2016 number:1 day:24 month:08 https://dx.doi.org/10.1186/s40001-016-0228-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2016 1 24 08 |
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10.1186/s40001-016-0228-7 doi (DE-627)SPR032597207 (SPR)s40001-016-0228-7-e DE-627 ger DE-627 rakwb eng 610 ASE Araujo, Thaís Fenz verfasserin aut Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. Pycnodysostosis (dpeaa)DE-He213 Cathepsin K (dpeaa)DE-He213 Inbreeding (dpeaa)DE-He213 Novel mutation (dpeaa)DE-He213 Ribeiro, Erlane Marques verfasserin aut Arruda, Anderson Pontes verfasserin aut Moreno, Carolina Araujo verfasserin aut de Medeiros, Paula Frassinetti Vasconcelos verfasserin aut Minillo, Renata Moldenhauer verfasserin aut Melo, Débora Gusmão verfasserin aut Kim, Chong Ae verfasserin aut Doriqui, Maria Juliana Rodovalho verfasserin aut Felix, Têmis Maria verfasserin aut Fock, Rodrigo Ambrosio verfasserin aut Cavalcanti, Denise Pontes verfasserin aut Enthalten in European journal of medical research London : BioMed Central, 2000 21(2016), 1 vom: 24. Aug. (DE-627)375977775 (DE-600)2129989-4 2047-783X nnns volume:21 year:2016 number:1 day:24 month:08 https://dx.doi.org/10.1186/s40001-016-0228-7 kostenfrei 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2016 1 24 08 |
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Araujo, Thaís Fenz |
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molecular analysis of the ctsk gene in a cohort of 33 brazilian families with pycnodysostosis from a cluster in a brazilian northeast region |
| title_auth |
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region |
| abstract |
Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. |
| abstractGer |
Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. |
| abstract_unstemmed |
Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis. Methods The CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents. Results We have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast. Conclusions The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect. |
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Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region |
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Ribeiro, Erlane Marques Arruda, Anderson Pontes Moreno, Carolina Araujo de Medeiros, Paula Frassinetti Vasconcelos Minillo, Renata Moldenhauer Melo, Débora Gusmão Kim, Chong Ae Doriqui, Maria Juliana Rodovalho Felix, Têmis Maria Fock, Rodrigo Ambrosio Cavalcanti, Denise Pontes |
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