Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the hist...
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| Autor*in: |
Micale, Lucia [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2011 |
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| Anmerkung: |
© Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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| Übergeordnetes Werk: |
Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 6(2011), 1 vom: 09. Juni |
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| Übergeordnetes Werk: |
volume:6 ; year:2011 ; number:1 ; day:09 ; month:06 |
| Links: |
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| DOI / URN: |
10.1186/1750-1172-6-38 |
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| Katalog-ID: |
SPR029484294 |
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| 520 | |a Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. | ||
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10.1186/1750-1172-6-38 doi (DE-627)SPR029484294 (SPR)1750-1172-6-38-e DE-627 ger DE-627 rakwb eng Micale, Lucia verfasserin aut Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. Missense Variant (dpeaa)DE-He213 Mixed Lineage Leukemia (dpeaa)DE-He213 Exonic Splice Enhancer (dpeaa)DE-He213 MLL2 Gene (dpeaa)DE-He213 Kabuki Syndrome (dpeaa)DE-He213 Augello, Bartolomeo aut Fusco, Carmela aut Selicorni, Angelo aut Loviglio, Maria N aut Silengo, Margherita Cirillo aut Reymond, Alexandre aut Gumiero, Barbara aut Zucchetti, Federica aut D'Addetta, Ester V aut Belligni, Elga aut Calcagnì, Alessia aut Digilio, Maria C aut Dallapiccola, Bruno aut Faravelli, Francesca aut Forzano, Francesca aut Accadia, Maria aut Bonfante, Aldo aut Clementi, Maurizio aut Daolio, Cecilia aut Douzgou, Sofia aut Ferrari, Paola aut Fischetto, Rita aut Garavelli, Livia aut Lapi, Elisabetta aut Mattina, Teresa aut Melis, Daniela aut Patricelli, Maria G aut Priolo, Manuela aut Prontera, Paolo aut Renieri, Alessandra aut Mencarelli, Maria A aut Scarano, Gioacchino aut Monica, Matteo della aut Toschi, Benedetta aut Turolla, Licia aut Vancini, Alessandra aut Zatterale, Adriana aut Gabrielli, Orazio aut Zelante, Leopoldo aut Merla, Giuseppe aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 6(2011), 1 vom: 09. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:6 year:2011 number:1 day:09 month:06 https://dx.doi.org/10.1186/1750-1172-6-38 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 6 2011 1 09 06 |
| spelling |
10.1186/1750-1172-6-38 doi (DE-627)SPR029484294 (SPR)1750-1172-6-38-e DE-627 ger DE-627 rakwb eng Micale, Lucia verfasserin aut Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. Missense Variant (dpeaa)DE-He213 Mixed Lineage Leukemia (dpeaa)DE-He213 Exonic Splice Enhancer (dpeaa)DE-He213 MLL2 Gene (dpeaa)DE-He213 Kabuki Syndrome (dpeaa)DE-He213 Augello, Bartolomeo aut Fusco, Carmela aut Selicorni, Angelo aut Loviglio, Maria N aut Silengo, Margherita Cirillo aut Reymond, Alexandre aut Gumiero, Barbara aut Zucchetti, Federica aut D'Addetta, Ester V aut Belligni, Elga aut Calcagnì, Alessia aut Digilio, Maria C aut Dallapiccola, Bruno aut Faravelli, Francesca aut Forzano, Francesca aut Accadia, Maria aut Bonfante, Aldo aut Clementi, Maurizio aut Daolio, Cecilia aut Douzgou, Sofia aut Ferrari, Paola aut Fischetto, Rita aut Garavelli, Livia aut Lapi, Elisabetta aut Mattina, Teresa aut Melis, Daniela aut Patricelli, Maria G aut Priolo, Manuela aut Prontera, Paolo aut Renieri, Alessandra aut Mencarelli, Maria A aut Scarano, Gioacchino aut Monica, Matteo della aut Toschi, Benedetta aut Turolla, Licia aut Vancini, Alessandra aut Zatterale, Adriana aut Gabrielli, Orazio aut Zelante, Leopoldo aut Merla, Giuseppe aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 6(2011), 1 vom: 09. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:6 year:2011 number:1 day:09 month:06 https://dx.doi.org/10.1186/1750-1172-6-38 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 6 2011 1 09 06 |
| allfields_unstemmed |
10.1186/1750-1172-6-38 doi (DE-627)SPR029484294 (SPR)1750-1172-6-38-e DE-627 ger DE-627 rakwb eng Micale, Lucia verfasserin aut Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. Missense Variant (dpeaa)DE-He213 Mixed Lineage Leukemia (dpeaa)DE-He213 Exonic Splice Enhancer (dpeaa)DE-He213 MLL2 Gene (dpeaa)DE-He213 Kabuki Syndrome (dpeaa)DE-He213 Augello, Bartolomeo aut Fusco, Carmela aut Selicorni, Angelo aut Loviglio, Maria N aut Silengo, Margherita Cirillo aut Reymond, Alexandre aut Gumiero, Barbara aut Zucchetti, Federica aut D'Addetta, Ester V aut Belligni, Elga aut Calcagnì, Alessia aut Digilio, Maria C aut Dallapiccola, Bruno aut Faravelli, Francesca aut Forzano, Francesca aut Accadia, Maria aut Bonfante, Aldo aut Clementi, Maurizio aut Daolio, Cecilia aut Douzgou, Sofia aut Ferrari, Paola aut Fischetto, Rita aut Garavelli, Livia aut Lapi, Elisabetta aut Mattina, Teresa aut Melis, Daniela aut Patricelli, Maria G aut Priolo, Manuela aut Prontera, Paolo aut Renieri, Alessandra aut Mencarelli, Maria A aut Scarano, Gioacchino aut Monica, Matteo della aut Toschi, Benedetta aut Turolla, Licia aut Vancini, Alessandra aut Zatterale, Adriana aut Gabrielli, Orazio aut Zelante, Leopoldo aut Merla, Giuseppe aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 6(2011), 1 vom: 09. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:6 year:2011 number:1 day:09 month:06 https://dx.doi.org/10.1186/1750-1172-6-38 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 6 2011 1 09 06 |
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10.1186/1750-1172-6-38 doi (DE-627)SPR029484294 (SPR)1750-1172-6-38-e DE-627 ger DE-627 rakwb eng Micale, Lucia verfasserin aut Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. Missense Variant (dpeaa)DE-He213 Mixed Lineage Leukemia (dpeaa)DE-He213 Exonic Splice Enhancer (dpeaa)DE-He213 MLL2 Gene (dpeaa)DE-He213 Kabuki Syndrome (dpeaa)DE-He213 Augello, Bartolomeo aut Fusco, Carmela aut Selicorni, Angelo aut Loviglio, Maria N aut Silengo, Margherita Cirillo aut Reymond, Alexandre aut Gumiero, Barbara aut Zucchetti, Federica aut D'Addetta, Ester V aut Belligni, Elga aut Calcagnì, Alessia aut Digilio, Maria C aut Dallapiccola, Bruno aut Faravelli, Francesca aut Forzano, Francesca aut Accadia, Maria aut Bonfante, Aldo aut Clementi, Maurizio aut Daolio, Cecilia aut Douzgou, Sofia aut Ferrari, Paola aut Fischetto, Rita aut Garavelli, Livia aut Lapi, Elisabetta aut Mattina, Teresa aut Melis, Daniela aut Patricelli, Maria G aut Priolo, Manuela aut Prontera, Paolo aut Renieri, Alessandra aut Mencarelli, Maria A aut Scarano, Gioacchino aut Monica, Matteo della aut Toschi, Benedetta aut Turolla, Licia aut Vancini, Alessandra aut Zatterale, Adriana aut Gabrielli, Orazio aut Zelante, Leopoldo aut Merla, Giuseppe aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 6(2011), 1 vom: 09. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:6 year:2011 number:1 day:09 month:06 https://dx.doi.org/10.1186/1750-1172-6-38 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 6 2011 1 09 06 |
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10.1186/1750-1172-6-38 doi (DE-627)SPR029484294 (SPR)1750-1172-6-38-e DE-627 ger DE-627 rakwb eng Micale, Lucia verfasserin aut Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. Missense Variant (dpeaa)DE-He213 Mixed Lineage Leukemia (dpeaa)DE-He213 Exonic Splice Enhancer (dpeaa)DE-He213 MLL2 Gene (dpeaa)DE-He213 Kabuki Syndrome (dpeaa)DE-He213 Augello, Bartolomeo aut Fusco, Carmela aut Selicorni, Angelo aut Loviglio, Maria N aut Silengo, Margherita Cirillo aut Reymond, Alexandre aut Gumiero, Barbara aut Zucchetti, Federica aut D'Addetta, Ester V aut Belligni, Elga aut Calcagnì, Alessia aut Digilio, Maria C aut Dallapiccola, Bruno aut Faravelli, Francesca aut Forzano, Francesca aut Accadia, Maria aut Bonfante, Aldo aut Clementi, Maurizio aut Daolio, Cecilia aut Douzgou, Sofia aut Ferrari, Paola aut Fischetto, Rita aut Garavelli, Livia aut Lapi, Elisabetta aut Mattina, Teresa aut Melis, Daniela aut Patricelli, Maria G aut Priolo, Manuela aut Prontera, Paolo aut Renieri, Alessandra aut Mencarelli, Maria A aut Scarano, Gioacchino aut Monica, Matteo della aut Toschi, Benedetta aut Turolla, Licia aut Vancini, Alessandra aut Zatterale, Adriana aut Gabrielli, Orazio aut Zelante, Leopoldo aut Merla, Giuseppe aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 6(2011), 1 vom: 09. Juni (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:6 year:2011 number:1 day:09 month:06 https://dx.doi.org/10.1186/1750-1172-6-38 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 6 2011 1 09 06 |
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Micale, Lucia @@aut@@ Augello, Bartolomeo @@aut@@ Fusco, Carmela @@aut@@ Selicorni, Angelo @@aut@@ Loviglio, Maria N @@aut@@ Silengo, Margherita Cirillo @@aut@@ Reymond, Alexandre @@aut@@ Gumiero, Barbara @@aut@@ Zucchetti, Federica @@aut@@ D'Addetta, Ester V @@aut@@ Belligni, Elga @@aut@@ Calcagnì, Alessia @@aut@@ Digilio, Maria C @@aut@@ Dallapiccola, Bruno @@aut@@ Faravelli, Francesca @@aut@@ Forzano, Francesca @@aut@@ Accadia, Maria @@aut@@ Bonfante, Aldo @@aut@@ Clementi, Maurizio @@aut@@ Daolio, Cecilia @@aut@@ Douzgou, Sofia @@aut@@ Ferrari, Paola @@aut@@ Fischetto, Rita @@aut@@ Garavelli, Livia @@aut@@ Lapi, Elisabetta @@aut@@ Mattina, Teresa @@aut@@ Melis, Daniela @@aut@@ Patricelli, Maria G @@aut@@ Priolo, Manuela @@aut@@ Prontera, Paolo @@aut@@ Renieri, Alessandra @@aut@@ Mencarelli, Maria A @@aut@@ Scarano, Gioacchino @@aut@@ Monica, Matteo della @@aut@@ Toschi, Benedetta @@aut@@ Turolla, Licia @@aut@@ Vancini, Alessandra @@aut@@ Zatterale, Adriana @@aut@@ Gabrielli, Orazio @@aut@@ Zelante, Leopoldo @@aut@@ Merla, Giuseppe @@aut@@ |
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Micale, Lucia Augello, Bartolomeo Fusco, Carmela Selicorni, Angelo Loviglio, Maria N Silengo, Margherita Cirillo Reymond, Alexandre Gumiero, Barbara Zucchetti, Federica D'Addetta, Ester V Belligni, Elga Calcagnì, Alessia Digilio, Maria C Dallapiccola, Bruno Faravelli, Francesca Forzano, Francesca Accadia, Maria Bonfante, Aldo Clementi, Maurizio Daolio, Cecilia Douzgou, Sofia Ferrari, Paola Fischetto, Rita Garavelli, Livia Lapi, Elisabetta Mattina, Teresa Melis, Daniela Patricelli, Maria G Priolo, Manuela Prontera, Paolo Renieri, Alessandra Mencarelli, Maria A Scarano, Gioacchino Monica, Matteo della Toschi, Benedetta Turolla, Licia Vancini, Alessandra Zatterale, Adriana Gabrielli, Orazio Zelante, Leopoldo Merla, Giuseppe |
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mutation spectrum of mll2 in a cohort of kabuki syndrome patients |
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Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients |
| abstract |
Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
| abstractGer |
Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
| abstract_unstemmed |
Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management. © Micale et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Augello, Bartolomeo Fusco, Carmela Selicorni, Angelo Loviglio, Maria N Silengo, Margherita Cirillo Reymond, Alexandre Gumiero, Barbara Zucchetti, Federica D'Addetta, Ester V Belligni, Elga Calcagnì, Alessia Digilio, Maria C Dallapiccola, Bruno Faravelli, Francesca Forzano, Francesca Accadia, Maria Bonfante, Aldo Clementi, Maurizio Daolio, Cecilia Douzgou, Sofia Ferrari, Paola Fischetto, Rita Garavelli, Livia Lapi, Elisabetta Mattina, Teresa Melis, Daniela Patricelli, Maria G Priolo, Manuela Prontera, Paolo Renieri, Alessandra Mencarelli, Maria A Scarano, Gioacchino Monica, Matteo della Toschi, Benedetta Turolla, Licia Vancini, Alessandra Zatterale, Adriana Gabrielli, Orazio Zelante, Leopoldo Merla, Giuseppe |
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