Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome

<p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000...
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Gespeichert in:

Autor*in:	Rinaldi Fabrizio [verfasserIn] D'Apice Maria [verfasserIn] Conte Chiara [verfasserIn] Gambardella Stefano [verfasserIn] Sangiuolo Federica [verfasserIn] Novelli Giuseppe [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2011

Schlagwörter:	Treacher Collins syndrome microdeletions microinsertions

Übergeordnetes Werk:	In: BMC Medical Genetics - BMC, 2003, 12(2011), 1, p 125
Übergeordnetes Werk:	volume:12 ; year:2011 ; number:1, p 125

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/1471-2350-12-125

Katalog-ID:	DOAJ017932602

Internformat


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520			\|a <p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p<
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allfields	10.1186/1471-2350-12-125 doi (DE-627)DOAJ017932602 (DE-599)DOAJaf10ee9e51ea4c8ea6a22a4753ed771a DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Rinaldi Fabrizio verfasserin aut Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p< Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions Internal medicine Genetics D'Apice Maria verfasserin aut Conte Chiara verfasserin aut Gambardella Stefano verfasserin aut Sangiuolo Federica verfasserin aut Novelli Giuseppe verfasserin aut In BMC Medical Genetics BMC, 2003 12(2011), 1, p 125 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:12 year:2011 number:1, p 125 https://doi.org/10.1186/1471-2350-12-125 kostenfrei https://doaj.org/article/af10ee9e51ea4c8ea6a22a4753ed771a kostenfrei http://www.biomedcentral.com/1471-2350/12/125 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 12 2011 1, p 125
spelling	10.1186/1471-2350-12-125 doi (DE-627)DOAJ017932602 (DE-599)DOAJaf10ee9e51ea4c8ea6a22a4753ed771a DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Rinaldi Fabrizio verfasserin aut Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p< Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions Internal medicine Genetics D'Apice Maria verfasserin aut Conte Chiara verfasserin aut Gambardella Stefano verfasserin aut Sangiuolo Federica verfasserin aut Novelli Giuseppe verfasserin aut In BMC Medical Genetics BMC, 2003 12(2011), 1, p 125 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:12 year:2011 number:1, p 125 https://doi.org/10.1186/1471-2350-12-125 kostenfrei https://doaj.org/article/af10ee9e51ea4c8ea6a22a4753ed771a kostenfrei http://www.biomedcentral.com/1471-2350/12/125 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 12 2011 1, p 125
allfields_unstemmed	10.1186/1471-2350-12-125 doi (DE-627)DOAJ017932602 (DE-599)DOAJaf10ee9e51ea4c8ea6a22a4753ed771a DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Rinaldi Fabrizio verfasserin aut Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p< Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions Internal medicine Genetics D'Apice Maria verfasserin aut Conte Chiara verfasserin aut Gambardella Stefano verfasserin aut Sangiuolo Federica verfasserin aut Novelli Giuseppe verfasserin aut In BMC Medical Genetics BMC, 2003 12(2011), 1, p 125 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:12 year:2011 number:1, p 125 https://doi.org/10.1186/1471-2350-12-125 kostenfrei https://doaj.org/article/af10ee9e51ea4c8ea6a22a4753ed771a kostenfrei http://www.biomedcentral.com/1471-2350/12/125 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 12 2011 1, p 125
allfieldsGer	10.1186/1471-2350-12-125 doi (DE-627)DOAJ017932602 (DE-599)DOAJaf10ee9e51ea4c8ea6a22a4753ed771a DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Rinaldi Fabrizio verfasserin aut Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p< Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions Internal medicine Genetics D'Apice Maria verfasserin aut Conte Chiara verfasserin aut Gambardella Stefano verfasserin aut Sangiuolo Federica verfasserin aut Novelli Giuseppe verfasserin aut In BMC Medical Genetics BMC, 2003 12(2011), 1, p 125 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:12 year:2011 number:1, p 125 https://doi.org/10.1186/1471-2350-12-125 kostenfrei https://doaj.org/article/af10ee9e51ea4c8ea6a22a4753ed771a kostenfrei http://www.biomedcentral.com/1471-2350/12/125 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 12 2011 1, p 125
allfieldsSound	10.1186/1471-2350-12-125 doi (DE-627)DOAJ017932602 (DE-599)DOAJaf10ee9e51ea4c8ea6a22a4753ed771a DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Rinaldi Fabrizio verfasserin aut Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p< Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions Internal medicine Genetics D'Apice Maria verfasserin aut Conte Chiara verfasserin aut Gambardella Stefano verfasserin aut Sangiuolo Federica verfasserin aut Novelli Giuseppe verfasserin aut In BMC Medical Genetics BMC, 2003 12(2011), 1, p 125 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:12 year:2011 number:1, p 125 https://doi.org/10.1186/1471-2350-12-125 kostenfrei https://doaj.org/article/af10ee9e51ea4c8ea6a22a4753ed771a kostenfrei http://www.biomedcentral.com/1471-2350/12/125 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 12 2011 1, p 125
language	English
source	In BMC Medical Genetics 12(2011), 1, p 125 volume:12 year:2011 number:1, p 125
sourceStr	In BMC Medical Genetics 12(2011), 1, p 125 volume:12 year:2011 number:1, p 125
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions Internal medicine Genetics
isfreeaccess_bool	true
container_title	BMC Medical Genetics
authorswithroles_txt_mv	Rinaldi Fabrizio @@aut@@ D'Apice Maria @@aut@@ Conte Chiara @@aut@@ Gambardella Stefano @@aut@@ Sangiuolo Federica @@aut@@ Novelli Giuseppe @@aut@@
publishDateDaySort_date	2011-01-01T00:00:00Z
hierarchy_top_id	326643788
id	DOAJ017932602
language_de	englisch
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callnumber-first	R - Medicine
author	Rinaldi Fabrizio
spellingShingle	Rinaldi Fabrizio misc RC31-1245 misc QH426-470 misc Treacher Collins syndrome misc <it<TCOF1 </it<mutations misc microdeletions misc microinsertions misc Internal medicine misc Genetics Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome
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topic_title	RC31-1245 QH426-470 Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome Treacher Collins syndrome <it<TCOF1 </it<mutations microdeletions microinsertions
topic	misc RC31-1245 misc QH426-470 misc Treacher Collins syndrome misc <it<TCOF1 </it<mutations misc microdeletions misc microinsertions misc Internal medicine misc Genetics
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title	Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome
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title_full	Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome
author_sort	Rinaldi Fabrizio
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author_browse	Rinaldi Fabrizio D'Apice Maria Conte Chiara Gambardella Stefano Sangiuolo Federica Novelli Giuseppe
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title_sort	novel mutations of <it<tcof1 </it<gene in european patients with treacher collins syndrome
callnumber	RC31-1245
title_auth	Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome
abstract	<p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p<
abstractGer	<p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p<
abstract_unstemmed	<p<Abstract</p< <p<Background</p< <p<Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. TCS results from mutations in the <it<TCOF1 </it<gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the <it<TCOF1 </it<gene have been implicated in only 81-93% of TCS cases.</p< <p<Methods</p< <p<In this study, the entire coding regions of the <it<TCOF1 </it<gene, including newly described exons 6A and 16A, were sequenced in 46 unrelated subjects suspected of TCS clinical indication.</p< <p<Results</p< <p<Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases. Moreover, seven novel polymorphisms were also described. Most of the mutations characterised were microdeletions spanning one or more nucleotides, in addition to an insertion of one nucleotide in exon 18 and a stop mutation. The deletions and the insertion described cause a premature termination of translation, resulting in a truncated protein.</p< <p<Conclusion</p< <p<This study confirms that almost all the <it<TCOF1 </it<pathogenic mutations fall in the coding region and lead to an aberrant protein.</p<
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Novel mutations of <it<TCOF1 </it<gene in European patients with treacher Collins syndrome

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