Eintrag weiter verarbeiten
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients
Gespeichert in:
| Zeitschriftentitel: | Clinical Genetics |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , |
| In: | Clinical Genetics, 88, 2015, 5, S. 431-440 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Spena, S. Milani, D. Rusconi, D. Negri, G. Colapietro, P. Elcioglu, N. Bedeschi, F. Pilotta, A. Spaccini, L. Ficcadenti, A. Magnani, C. Scarano, G. Selicorni, A. Larizza, L. Gervasini, C. Spena, S. Milani, D. Rusconi, D. Negri, G. Colapietro, P. Elcioglu, N. Bedeschi, F. Pilotta, A. Spaccini, L. Ficcadenti, A. Magnani, C. Scarano, G. Selicorni, A. Larizza, L. Gervasini, C. |
|---|---|
| author |
Spena, S. Milani, D. Rusconi, D. Negri, G. Colapietro, P. Elcioglu, N. Bedeschi, F. Pilotta, A. Spaccini, L. Ficcadenti, A. Magnani, C. Scarano, G. Selicorni, A. Larizza, L. Gervasini, C. |
| spellingShingle |
Spena, S. Milani, D. Rusconi, D. Negri, G. Colapietro, P. Elcioglu, N. Bedeschi, F. Pilotta, A. Spaccini, L. Ficcadenti, A. Magnani, C. Scarano, G. Selicorni, A. Larizza, L. Gervasini, C. Clinical Genetics Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients Genetics (clinical) Genetics |
| author_sort |
spena, s. |
| spelling |
Spena, S. Milani, D. Rusconi, D. Negri, G. Colapietro, P. Elcioglu, N. Bedeschi, F. Pilotta, A. Spaccini, L. Ficcadenti, A. Magnani, C. Scarano, G. Selicorni, A. Larizza, L. Gervasini, C. 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.12537 <jats:p>The genetic basis of Rubinstein–Taybi syndrome (<jats:styled-content style="fixed-case">RSTS</jats:styled-content>), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> (approximately 55% of cases) or <jats:italic><jats:styled-content style="fixed-case">EP300</jats:styled-content></jats:italic> (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 <jats:styled-content style="fixed-case">RSTS</jats:styled-content> patients, all carriers of <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype–phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in <jats:styled-content style="fixed-case">RSTS</jats:styled-content> diagnosis, now could be considered. Some suggested correlations between organ‐specific anomalies and affected <jats:styled-content style="fixed-case">CREB</jats:styled-content>‐binding protein domains broaden the <jats:styled-content style="fixed-case">RSTS</jats:styled-content> clinical spectrum and perhaps will enhance patient follow‐up and clinical care.</jats:p> Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients Clinical Genetics |
| doi_str_mv |
10.1111/cge.12537 |
| facet_avail |
Online |
| finc_class_facet |
Biologie |
| format |
ElectronicArticle |
| fullrecord |
blob:ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTExMS9jZ2UuMTI1Mzc |
| id |
ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTExMS9jZ2UuMTI1Mzc |
| institution |
DE-Gla1 DE-Zi4 DE-15 DE-Pl11 DE-Rs1 DE-105 DE-14 DE-Ch1 DE-L229 DE-D275 DE-Bn3 DE-Brt1 DE-D161 |
| imprint |
Wiley, 2015 |
| imprint_str_mv |
Wiley, 2015 |
| issn |
0009-9163 1399-0004 |
| issn_str_mv |
0009-9163 1399-0004 |
| language |
English |
| mega_collection |
Wiley (CrossRef) |
| match_str |
spena2015insightsintogenotypephenotypecorrelationsfromcrebbppointmutationscreeninginacohortof46rubinsteintaybisyndromepatients |
| publishDateSort |
2015 |
| publisher |
Wiley |
| recordtype |
ai |
| record_format |
ai |
| series |
Clinical Genetics |
| source_id |
49 |
| title |
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_unstemmed |
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_full |
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_fullStr |
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_full_unstemmed |
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_short |
Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_sort |
insights into genotype–phenotype correlations from <i><scp>crebbp</scp></i> point mutation screening in a cohort of 46 rubinstein–taybi syndrome patients |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1111/cge.12537 |
| publishDate |
2015 |
| physical |
431-440 |
| description |
<jats:p>The genetic basis of Rubinstein–Taybi syndrome (<jats:styled-content style="fixed-case">RSTS</jats:styled-content>), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> (approximately 55% of cases) or <jats:italic><jats:styled-content style="fixed-case">EP300</jats:styled-content></jats:italic> (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 <jats:styled-content style="fixed-case">RSTS</jats:styled-content> patients, all carriers of <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype–phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in <jats:styled-content style="fixed-case">RSTS</jats:styled-content> diagnosis, now could be considered. Some suggested correlations between organ‐specific anomalies and affected <jats:styled-content style="fixed-case">CREB</jats:styled-content>‐binding protein domains broaden the <jats:styled-content style="fixed-case">RSTS</jats:styled-content> clinical spectrum and perhaps will enhance patient follow‐up and clinical care.</jats:p> |
| container_issue |
5 |
| container_start_page |
431 |
| container_title |
Clinical Genetics |
| container_volume |
88 |
| format_de105 |
Article, E-Article |
| format_de14 |
Article, E-Article |
| format_de15 |
Article, E-Article |
| format_de520 |
Article, E-Article |
| format_de540 |
Article, E-Article |
| format_dech1 |
Article, E-Article |
| format_ded117 |
Article, E-Article |
| format_degla1 |
E-Article |
| format_del152 |
Buch |
| format_del189 |
Article, E-Article |
| format_dezi4 |
Article |
| format_dezwi2 |
Article, E-Article |
| format_finc |
Article, E-Article |
| format_nrw |
Article, E-Article |
| _version_ |
1792346970674692103 |
| geogr_code |
not assigned |
| last_indexed |
2024-03-01T17:47:23.349Z |
| geogr_code_person |
not assigned |
| openURL |
url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fvufind.svn.sourceforge.net%3Agenerator&rft.title=Insights+into+genotype%E2%80%93phenotype+correlations+from+CREBBP+point+mutation+screening+in+a+cohort+of+46+Rubinstein%E2%80%93Taybi+syndrome+patients&rft.date=2015-11-01&genre=article&issn=1399-0004&volume=88&issue=5&spage=431&epage=440&pages=431-440&jtitle=Clinical+Genetics&atitle=Insights+into+genotype%E2%80%93phenotype+correlations+from+%3Ci%3E%3Cscp%3ECREBBP%3C%2Fscp%3E%3C%2Fi%3E+point+mutation+screening+in+a+cohort+of+46+Rubinstein%E2%80%93Taybi+syndrome+patients&aulast=Gervasini&aufirst=C.&rft_id=info%3Adoi%2F10.1111%2Fcge.12537&rft.language%5B0%5D=eng |
| SOLR | |
| _version_ | 1792346970674692103 |
| author | Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C. |
| author_facet | Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C., Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C. |
| author_sort | spena, s. |
| container_issue | 5 |
| container_start_page | 431 |
| container_title | Clinical Genetics |
| container_volume | 88 |
| description | <jats:p>The genetic basis of Rubinstein–Taybi syndrome (<jats:styled-content style="fixed-case">RSTS</jats:styled-content>), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> (approximately 55% of cases) or <jats:italic><jats:styled-content style="fixed-case">EP300</jats:styled-content></jats:italic> (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 <jats:styled-content style="fixed-case">RSTS</jats:styled-content> patients, all carriers of <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype–phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in <jats:styled-content style="fixed-case">RSTS</jats:styled-content> diagnosis, now could be considered. Some suggested correlations between organ‐specific anomalies and affected <jats:styled-content style="fixed-case">CREB</jats:styled-content>‐binding protein domains broaden the <jats:styled-content style="fixed-case">RSTS</jats:styled-content> clinical spectrum and perhaps will enhance patient follow‐up and clinical care.</jats:p> |
| doi_str_mv | 10.1111/cge.12537 |
| facet_avail | Online |
| finc_class_facet | Biologie |
| format | ElectronicArticle |
| format_de105 | Article, E-Article |
| format_de14 | Article, E-Article |
| format_de15 | Article, E-Article |
| format_de520 | Article, E-Article |
| format_de540 | Article, E-Article |
| format_dech1 | Article, E-Article |
| format_ded117 | Article, E-Article |
| format_degla1 | E-Article |
| format_del152 | Buch |
| format_del189 | Article, E-Article |
| format_dezi4 | Article |
| format_dezwi2 | Article, E-Article |
| format_finc | Article, E-Article |
| format_nrw | Article, E-Article |
| geogr_code | not assigned |
| geogr_code_person | not assigned |
| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTExMS9jZ2UuMTI1Mzc |
| imprint | Wiley, 2015 |
| imprint_str_mv | Wiley, 2015 |
| institution | DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-D161 |
| issn | 0009-9163, 1399-0004 |
| issn_str_mv | 0009-9163, 1399-0004 |
| language | English |
| last_indexed | 2024-03-01T17:47:23.349Z |
| match_str | spena2015insightsintogenotypephenotypecorrelationsfromcrebbppointmutationscreeninginacohortof46rubinsteintaybisyndromepatients |
| mega_collection | Wiley (CrossRef) |
| physical | 431-440 |
| publishDate | 2015 |
| publishDateSort | 2015 |
| publisher | Wiley |
| record_format | ai |
| recordtype | ai |
| series | Clinical Genetics |
| source_id | 49 |
| spelling | Spena, S. Milani, D. Rusconi, D. Negri, G. Colapietro, P. Elcioglu, N. Bedeschi, F. Pilotta, A. Spaccini, L. Ficcadenti, A. Magnani, C. Scarano, G. Selicorni, A. Larizza, L. Gervasini, C. 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.12537 <jats:p>The genetic basis of Rubinstein–Taybi syndrome (<jats:styled-content style="fixed-case">RSTS</jats:styled-content>), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> (approximately 55% of cases) or <jats:italic><jats:styled-content style="fixed-case">EP300</jats:styled-content></jats:italic> (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 <jats:styled-content style="fixed-case">RSTS</jats:styled-content> patients, all carriers of <jats:italic><jats:styled-content style="fixed-case">CREBBP</jats:styled-content></jats:italic> point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype–phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in <jats:styled-content style="fixed-case">RSTS</jats:styled-content> diagnosis, now could be considered. Some suggested correlations between organ‐specific anomalies and affected <jats:styled-content style="fixed-case">CREB</jats:styled-content>‐binding protein domains broaden the <jats:styled-content style="fixed-case">RSTS</jats:styled-content> clinical spectrum and perhaps will enhance patient follow‐up and clinical care.</jats:p> Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients Clinical Genetics |
| spellingShingle | Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C., Clinical Genetics, Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients, Genetics (clinical), Genetics |
| title | Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_full | Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_fullStr | Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_full_unstemmed | Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_short | Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| title_sort | insights into genotype–phenotype correlations from <i><scp>crebbp</scp></i> point mutation screening in a cohort of 46 rubinstein–taybi syndrome patients |
| title_unstemmed | Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1111/cge.12537 |