Genomic deletions on 16p11.2 associated with severe obesity in Brazil
IntroductionGenetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterio...
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Frontiers Media S.A.
2025-01-01
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| author | Izadora Sthephanie da Silva Assis Izadora Sthephanie da Silva Assis Kaio Cezar Rodrigues Salum Kaio Cezar Rodrigues Salum Kaio Cezar Rodrigues Salum Rafaela de Freitas Martins Felício Lohanna Palhinha Gabriella de Medeiros Abreu Gabriella de Medeiros Abreu Tamara Silva Fernanda Cristina Carvalho Mattos Eliane Lopes Rosado Verônica Marques Zembrzuski Mario Campos Junior Clarissa Menezes Maya-Monteiro Pedro Hernán Cabello João Regis Ivar Carneiro Patrícia Torres Bozza Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca |
| author_facet | Izadora Sthephanie da Silva Assis Izadora Sthephanie da Silva Assis Kaio Cezar Rodrigues Salum Kaio Cezar Rodrigues Salum Kaio Cezar Rodrigues Salum Rafaela de Freitas Martins Felício Lohanna Palhinha Gabriella de Medeiros Abreu Gabriella de Medeiros Abreu Tamara Silva Fernanda Cristina Carvalho Mattos Eliane Lopes Rosado Verônica Marques Zembrzuski Mario Campos Junior Clarissa Menezes Maya-Monteiro Pedro Hernán Cabello João Regis Ivar Carneiro Patrícia Torres Bozza Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca |
| author_sort | Izadora Sthephanie da Silva Assis |
| collection | DOAJ |
| description | IntroductionGenetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterious copy number variations (CNVs) linked to obesity and explore the clinical phenotypes.MethodThe sample comprised 195 adults with severe obesity (BMI≥35kg/m2) who developed this phenotype during childhood or adolescence. We investigated the CNV using Multiplex Ligation-dependent Probe Amplification [MLPA] and real-time PCR. Chromosomal microarray analysis was used to assess the extent of genomic alterations.ResultsOne patient showed a ~206 kb deletion in the distal of the 16p11.2 region, encompassing twelve genes. The gene linked to the development of severe obesity was SH2B1. This alteration was found in a male patient with metabolic syndrome (MS), and hypertension. Two patients exhibited a large deletion in the proximal of the 16p11.2 region. One patient showed a ~534 kb deletion without twenty-nine genes. This female patient had hypertension and bronchitis. The other patient presented a ~598 kb deletion of the proximal 16p11.2 region, including thirty-two genes. This female patient exhibited MS, and moderate binge-eating disorder.ConclusionOur study showed three genomic deletions at the 16p11.2 region in patients with severe obesity from Brazil. These results support the clinical utility of genetic testing to identify patients with the genetic form of obesity who may benefit from specific medical treatment, family genetic counseling, and targeted therapeutic intervention. |
| format | Article |
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| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Endocrinology |
| spelling | doaj-art-f3b6edd37f9349c58f6b55ea6398c9ce2025-01-17T04:11:20ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-01-011510.3389/fendo.2024.14955341495534Genomic deletions on 16p11.2 associated with severe obesity in BrazilIzadora Sthephanie da Silva Assis0Izadora Sthephanie da Silva Assis1Kaio Cezar Rodrigues Salum2Kaio Cezar Rodrigues Salum3Kaio Cezar Rodrigues Salum4Rafaela de Freitas Martins Felício5Lohanna Palhinha6Gabriella de Medeiros Abreu7Gabriella de Medeiros Abreu8Tamara Silva9Fernanda Cristina Carvalho Mattos10Eliane Lopes Rosado11Verônica Marques Zembrzuski12Mario Campos Junior13Clarissa Menezes Maya-Monteiro14Pedro Hernán Cabello15João Regis Ivar Carneiro16Patrícia Torres Bozza17Ana Carolina Proença da Fonseca18Ana Carolina Proença da Fonseca19Ana Carolina Proença da Fonseca20Ana Carolina Proença da Fonseca21Laboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilClementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilBirth Defects Epidemiology Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilJosué de Castro Nutrition Institute, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilGenetics Laboratory, Grande Rio University/AFYA, Rio de Janeiro, BrazilJosué de Castro Nutrition Institute, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilJosué de Castro Nutrition Institute, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilClementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, BrazilGenetics Laboratory, Grande Rio University/AFYA, Rio de Janeiro, BrazilPostgraduate Program in Translational Biomedicine, Grande Rio University/AFYA, Rio de Janeiro, BrazilIntroductionGenetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterious copy number variations (CNVs) linked to obesity and explore the clinical phenotypes.MethodThe sample comprised 195 adults with severe obesity (BMI≥35kg/m2) who developed this phenotype during childhood or adolescence. We investigated the CNV using Multiplex Ligation-dependent Probe Amplification [MLPA] and real-time PCR. Chromosomal microarray analysis was used to assess the extent of genomic alterations.ResultsOne patient showed a ~206 kb deletion in the distal of the 16p11.2 region, encompassing twelve genes. The gene linked to the development of severe obesity was SH2B1. This alteration was found in a male patient with metabolic syndrome (MS), and hypertension. Two patients exhibited a large deletion in the proximal of the 16p11.2 region. One patient showed a ~534 kb deletion without twenty-nine genes. This female patient had hypertension and bronchitis. The other patient presented a ~598 kb deletion of the proximal 16p11.2 region, including thirty-two genes. This female patient exhibited MS, and moderate binge-eating disorder.ConclusionOur study showed three genomic deletions at the 16p11.2 region in patients with severe obesity from Brazil. These results support the clinical utility of genetic testing to identify patients with the genetic form of obesity who may benefit from specific medical treatment, family genetic counseling, and targeted therapeutic intervention.https://www.frontiersin.org/articles/10.3389/fendo.2024.1495534/fullgenetic obesitycopy number variationsSH2B1bariatric surgeryMLPACGH-array |
| spellingShingle | Izadora Sthephanie da Silva Assis Izadora Sthephanie da Silva Assis Kaio Cezar Rodrigues Salum Kaio Cezar Rodrigues Salum Kaio Cezar Rodrigues Salum Rafaela de Freitas Martins Felício Lohanna Palhinha Gabriella de Medeiros Abreu Gabriella de Medeiros Abreu Tamara Silva Fernanda Cristina Carvalho Mattos Eliane Lopes Rosado Verônica Marques Zembrzuski Mario Campos Junior Clarissa Menezes Maya-Monteiro Pedro Hernán Cabello João Regis Ivar Carneiro Patrícia Torres Bozza Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Ana Carolina Proença da Fonseca Genomic deletions on 16p11.2 associated with severe obesity in Brazil Frontiers in Endocrinology genetic obesity copy number variations SH2B1 bariatric surgery MLPA CGH-array |
| title | Genomic deletions on 16p11.2 associated with severe obesity in Brazil |
| title_full | Genomic deletions on 16p11.2 associated with severe obesity in Brazil |
| title_fullStr | Genomic deletions on 16p11.2 associated with severe obesity in Brazil |
| title_full_unstemmed | Genomic deletions on 16p11.2 associated with severe obesity in Brazil |
| title_short | Genomic deletions on 16p11.2 associated with severe obesity in Brazil |
| title_sort | genomic deletions on 16p11 2 associated with severe obesity in brazil |
| topic | genetic obesity copy number variations SH2B1 bariatric surgery MLPA CGH-array |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1495534/full |
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