Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying ob...
Ausführliche Beschreibung
Autor*in: |
D’Angelo, Carla Sustek [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2018 |
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Schlagwörter: |
Chromosomal microarray analysis (CMA) |
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Anmerkung: |
© The Author(s). 2017 |
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Übergeordnetes Werk: |
Enthalten in: Molecular cytogenetics - London : BioMed Central, 2008, 11(2018), 1 vom: 05. Feb. |
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Übergeordnetes Werk: |
volume:11 ; year:2018 ; number:1 ; day:05 ; month:02 |
Links: |
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DOI / URN: |
10.1186/s13039-018-0363-7 |
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Katalog-ID: |
SPR029584027 |
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520 | |a Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. | ||
650 | 4 | |a Chromosomal microarray analysis (CMA) |7 (dpeaa)DE-He213 | |
650 | 4 | |a Copy number variations (CNVs) |7 (dpeaa)DE-He213 | |
650 | 4 | |a Body mass index (BMI) |7 (dpeaa)DE-He213 | |
650 | 4 | |a Intellectual and developmental disabilities (IDDs) |7 (dpeaa)DE-He213 | |
650 | 4 | |a Prader-Willi syndrome (PWS) |7 (dpeaa)DE-He213 | |
650 | 4 | |a Syndromic obesity |7 (dpeaa)DE-He213 | |
700 | 1 | |a Varela, Monica Castro |4 aut | |
700 | 1 | |a de Castro, Claudia Irene Emílio |4 aut | |
700 | 1 | |a Otto, Paulo Alberto |4 aut | |
700 | 1 | |a Perez, Ana Beatriz Alvarez |4 aut | |
700 | 1 | |a Lourenço, Charles Marques |4 aut | |
700 | 1 | |a Kim, Chong Ae |4 aut | |
700 | 1 | |a Bertola, Debora Romeo |4 aut | |
700 | 1 | |a Kok, Fernando |4 aut | |
700 | 1 | |a Garcia-Alonso, Luis |4 aut | |
700 | 1 | |a Koiffmann, Celia Priszkulnik |4 aut | |
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10.1186/s13039-018-0363-7 doi (DE-627)SPR029584027 (SPR)s13039-018-0363-7-e DE-627 ger DE-627 rakwb eng D’Angelo, Carla Sustek verfasserin aut Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. Chromosomal microarray analysis (CMA) (dpeaa)DE-He213 Copy number variations (CNVs) (dpeaa)DE-He213 Body mass index (BMI) (dpeaa)DE-He213 Intellectual and developmental disabilities (IDDs) (dpeaa)DE-He213 Prader-Willi syndrome (PWS) (dpeaa)DE-He213 Syndromic obesity (dpeaa)DE-He213 Varela, Monica Castro aut de Castro, Claudia Irene Emílio aut Otto, Paulo Alberto aut Perez, Ana Beatriz Alvarez aut Lourenço, Charles Marques aut Kim, Chong Ae aut Bertola, Debora Romeo aut Kok, Fernando aut Garcia-Alonso, Luis aut Koiffmann, Celia Priszkulnik aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 11(2018), 1 vom: 05. Feb. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:11 year:2018 number:1 day:05 month:02 https://dx.doi.org/10.1186/s13039-018-0363-7 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_70 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 11 2018 1 05 02 |
spelling |
10.1186/s13039-018-0363-7 doi (DE-627)SPR029584027 (SPR)s13039-018-0363-7-e DE-627 ger DE-627 rakwb eng D’Angelo, Carla Sustek verfasserin aut Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. Chromosomal microarray analysis (CMA) (dpeaa)DE-He213 Copy number variations (CNVs) (dpeaa)DE-He213 Body mass index (BMI) (dpeaa)DE-He213 Intellectual and developmental disabilities (IDDs) (dpeaa)DE-He213 Prader-Willi syndrome (PWS) (dpeaa)DE-He213 Syndromic obesity (dpeaa)DE-He213 Varela, Monica Castro aut de Castro, Claudia Irene Emílio aut Otto, Paulo Alberto aut Perez, Ana Beatriz Alvarez aut Lourenço, Charles Marques aut Kim, Chong Ae aut Bertola, Debora Romeo aut Kok, Fernando aut Garcia-Alonso, Luis aut Koiffmann, Celia Priszkulnik aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 11(2018), 1 vom: 05. Feb. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:11 year:2018 number:1 day:05 month:02 https://dx.doi.org/10.1186/s13039-018-0363-7 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_70 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 11 2018 1 05 02 |
allfields_unstemmed |
10.1186/s13039-018-0363-7 doi (DE-627)SPR029584027 (SPR)s13039-018-0363-7-e DE-627 ger DE-627 rakwb eng D’Angelo, Carla Sustek verfasserin aut Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. Chromosomal microarray analysis (CMA) (dpeaa)DE-He213 Copy number variations (CNVs) (dpeaa)DE-He213 Body mass index (BMI) (dpeaa)DE-He213 Intellectual and developmental disabilities (IDDs) (dpeaa)DE-He213 Prader-Willi syndrome (PWS) (dpeaa)DE-He213 Syndromic obesity (dpeaa)DE-He213 Varela, Monica Castro aut de Castro, Claudia Irene Emílio aut Otto, Paulo Alberto aut Perez, Ana Beatriz Alvarez aut Lourenço, Charles Marques aut Kim, Chong Ae aut Bertola, Debora Romeo aut Kok, Fernando aut Garcia-Alonso, Luis aut Koiffmann, Celia Priszkulnik aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 11(2018), 1 vom: 05. Feb. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:11 year:2018 number:1 day:05 month:02 https://dx.doi.org/10.1186/s13039-018-0363-7 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_70 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 11 2018 1 05 02 |
allfieldsGer |
10.1186/s13039-018-0363-7 doi (DE-627)SPR029584027 (SPR)s13039-018-0363-7-e DE-627 ger DE-627 rakwb eng D’Angelo, Carla Sustek verfasserin aut Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. Chromosomal microarray analysis (CMA) (dpeaa)DE-He213 Copy number variations (CNVs) (dpeaa)DE-He213 Body mass index (BMI) (dpeaa)DE-He213 Intellectual and developmental disabilities (IDDs) (dpeaa)DE-He213 Prader-Willi syndrome (PWS) (dpeaa)DE-He213 Syndromic obesity (dpeaa)DE-He213 Varela, Monica Castro aut de Castro, Claudia Irene Emílio aut Otto, Paulo Alberto aut Perez, Ana Beatriz Alvarez aut Lourenço, Charles Marques aut Kim, Chong Ae aut Bertola, Debora Romeo aut Kok, Fernando aut Garcia-Alonso, Luis aut Koiffmann, Celia Priszkulnik aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 11(2018), 1 vom: 05. Feb. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:11 year:2018 number:1 day:05 month:02 https://dx.doi.org/10.1186/s13039-018-0363-7 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_70 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 11 2018 1 05 02 |
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10.1186/s13039-018-0363-7 doi (DE-627)SPR029584027 (SPR)s13039-018-0363-7-e DE-627 ger DE-627 rakwb eng D’Angelo, Carla Sustek verfasserin aut Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. Chromosomal microarray analysis (CMA) (dpeaa)DE-He213 Copy number variations (CNVs) (dpeaa)DE-He213 Body mass index (BMI) (dpeaa)DE-He213 Intellectual and developmental disabilities (IDDs) (dpeaa)DE-He213 Prader-Willi syndrome (PWS) (dpeaa)DE-He213 Syndromic obesity (dpeaa)DE-He213 Varela, Monica Castro aut de Castro, Claudia Irene Emílio aut Otto, Paulo Alberto aut Perez, Ana Beatriz Alvarez aut Lourenço, Charles Marques aut Kim, Chong Ae aut Bertola, Debora Romeo aut Kok, Fernando aut Garcia-Alonso, Luis aut Koiffmann, Celia Priszkulnik aut Enthalten in Molecular cytogenetics London : BioMed Central, 2008 11(2018), 1 vom: 05. Feb. (DE-627)562079963 (DE-600)2420849-8 1755-8166 nnns volume:11 year:2018 number:1 day:05 month:02 https://dx.doi.org/10.1186/s13039-018-0363-7 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_70 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 11 2018 1 05 02 |
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D’Angelo, Carla Sustek @@aut@@ Varela, Monica Castro @@aut@@ de Castro, Claudia Irene Emílio @@aut@@ Otto, Paulo Alberto @@aut@@ Perez, Ana Beatriz Alvarez @@aut@@ Lourenço, Charles Marques @@aut@@ Kim, Chong Ae @@aut@@ Bertola, Debora Romeo @@aut@@ Kok, Fernando @@aut@@ Garcia-Alonso, Luis @@aut@@ Koiffmann, Celia Priszkulnik @@aut@@ |
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D’Angelo, Carla Sustek misc Chromosomal microarray analysis (CMA) misc Copy number variations (CNVs) misc Body mass index (BMI) misc Intellectual and developmental disabilities (IDDs) misc Prader-Willi syndrome (PWS) misc Syndromic obesity Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity Chromosomal microarray analysis (CMA) (dpeaa)DE-He213 Copy number variations (CNVs) (dpeaa)DE-He213 Body mass index (BMI) (dpeaa)DE-He213 Intellectual and developmental disabilities (IDDs) (dpeaa)DE-He213 Prader-Willi syndrome (PWS) (dpeaa)DE-He213 Syndromic obesity (dpeaa)DE-He213 |
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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
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Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
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D’Angelo, Carla Sustek |
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Molecular cytogenetics |
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2018 |
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D’Angelo, Carla Sustek Varela, Monica Castro de Castro, Claudia Irene Emílio Otto, Paulo Alberto Perez, Ana Beatriz Alvarez Lourenço, Charles Marques Kim, Chong Ae Bertola, Debora Romeo Kok, Fernando Garcia-Alonso, Luis Koiffmann, Celia Priszkulnik |
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Elektronische Aufsätze |
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D’Angelo, Carla Sustek |
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10.1186/s13039-018-0363-7 |
title_sort |
chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
title_auth |
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
abstract |
Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. © The Author(s). 2017 |
abstractGer |
Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. © The Author(s). 2017 |
abstract_unstemmed |
Background Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs); however, CMA in large cohorts requires more study. The aim of this study was to characterize the CNVs detected by CMA in 279 patients with a syndromic obesity phenotype. Results Pathogenic CNVs were detected in 61 patients (22%) and, among them, 35 had overlapping/recurrent CNVs. Genomic imbalance disorders known to cause syndromic obesity were found in 8.2% of cases, most commonly deletions of 1p36, 2q37 and 17p11.2 (5.4%), and we also detected deletions at 1p21.3, 2p25.3, 6q16, 9q34, 16p11.2 distal and proximal, as well as an unbalanced translocation resulting in duplication of the GNB3 gene responsible for a syndromic for of childhood obesity. Deletions of 9p terminal and 22q11.2 proximal/distal were found in 1% and 3% of cases, respectively. They thus emerge as being new putative obesity-susceptibility loci. We found additional CNVs in our study that overlapped with CNVs previously reported in cases of syndromic obesity, including a new case of 13q34 deletion (CHAMP1), bringing to 7 the number of patients in whom such defects have been described in association with obesity. Our findings implicate many genes previously associated with obesity (e.g. PTBP2, TMEM18, MYT1L, POU3F2, SIM1, SH2B1), and also identified other potentially relevant candidates including TAS1R3, ALOX5AP, and GAS6. Conclusion Understanding the genetics of obesity has proven difficult, and considerable insight has been obtained from the study of genomic disorders with obesity associated as part of the phenotype. In our study, CNVs known to be causal for syndromic obesity were detected in 8.2% of patients, but we provide evidence for a genetic basis of obesity in as many as 14% of cases. Overall, our results underscore the genetic heterogeneity in syndromic forms of obesity, which imposes a substantial challenge for diagnosis. © The Author(s). 2017 |
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title_short |
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity |
url |
https://dx.doi.org/10.1186/s13039-018-0363-7 |
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Varela, Monica Castro de Castro, Claudia Irene Emílio Otto, Paulo Alberto Perez, Ana Beatriz Alvarez Lourenço, Charles Marques Kim, Chong Ae Bertola, Debora Romeo Kok, Fernando Garcia-Alonso, Luis Koiffmann, Celia Priszkulnik |
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Varela, Monica Castro de Castro, Claudia Irene Emílio Otto, Paulo Alberto Perez, Ana Beatriz Alvarez Lourenço, Charles Marques Kim, Chong Ae Bertola, Debora Romeo Kok, Fernando Garcia-Alonso, Luis Koiffmann, Celia Priszkulnik |
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