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Genetic investigation of syndromic forms of obesity.
Carvalho, Laura Machado Lara; D'Angelo, Carla Sustek; Villela, Darine; da Costa, Silvia Souza; de Lima Jorge, Alexander Augusto; da Silva, Israel Tojal; de Oliveira Scliar, Marília; Chaves, Luiza Dias; Krepischi, Ana Cristina Victorino; Koiffmann, Celia Priszkulnik; Rosenberg, Carla.
Afiliación
  • Carvalho LML; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • D'Angelo CS; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • Villela D; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • da Costa SS; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • de Lima Jorge AA; Genetic Endocrinology Unit, Cellular and Molecular Endocrinology Laboratory (LIM/25), Faculty of Medicine, University of São Paulo (USP), São Paulo, SP, Brazil.
  • da Silva IT; International Center for Research, A. C. Camargo Cancer Center, São Paulo, SP, Brazil.
  • de Oliveira Scliar M; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • Chaves LD; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • Krepischi ACV; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • Koiffmann CP; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
  • Rosenberg C; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil. carlarosenberg@ib.usp.br.
Int J Obes (Lond) ; 46(9): 1582-1586, 2022 09.
Article en En | MEDLINE | ID: mdl-35597848
BACKGROUND: Syndromic obesity (SO) refers to obesity with additional phenotypes, including intellectual disability (ID)/developmental delay (DD), dysmorphic features, or organ-specific abnormalities. SO is rare, has high phenotypic variability, and frequently follows a monogenic pattern of inheritance. However, the genetic etiology of most cases of SO has not been elucidated. SUBJECTS AND METHODS: In this study, we investigated 20 SO patients by whole-exome sequencing (WES) trios to identify causal genetic variants. RESULTS: 4/20 patients had negative results for array comparative genomic hybridization (aCGH) analyses. In the remaining 15 patients, in addition to SNVs and indels, CNVs were also evaluated. Pathogenic/likely pathogenic (P/LP) SNVs/indels were detected in 6/20 patients (involving MED13L, AHDC1, EHMT1, MYT1L, GRIA3, and SETD1A), while two patients carried an inherited VUS. In addition, P/LP CNVs were observed in 3/15 patients (involving SATG2, KIAA0442, and MEIS2). CONCLUSIONS: All nine detected P/LP variants involved genes already known to lead to syndromic ID/DD; however, for only two genes (EHMT1 and MYT1L) is the link with obesity well established. This is the first study applying a comprehensive genomic investigation of an SO cohort, showing a high diagnostic yield (~47%). Additionally, our findings suggested that several known ID/DD genes may also predispose individuals to SO.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Int J Obes (Lond) Asunto de la revista: METABOLISMO Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Int J Obes (Lond) Asunto de la revista: METABOLISMO Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido