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Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.
Rodrigues Alves Barbosa, Victoria; Maroilley, Tatiana; Diao, Catherine; Colvin-James, Leslie; Perrier, Renee; Tarailo-Graovac, Maja.
Afiliação
  • Rodrigues Alves Barbosa V; https://ror.org/03yjb2x39 Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Maroilley T; https://ror.org/03yjb2x39 Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Diao C; https://ror.org/03yjb2x39 Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada.
  • Colvin-James L; https://ror.org/03yjb2x39 Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Perrier R; https://ror.org/03yjb2x39 Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Tarailo-Graovac M; https://ror.org/03yjb2x39 Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada.
Life Sci Alliance ; 7(4)2024 Apr.
Article em En | MEDLINE | ID: mdl-38253421
ABSTRACT
Despite the advances in high-throughput sequencing, many rare disease patients remain undiagnosed. In particular, the patients with well-defined clinical phenotypes and established clinical diagnosis, yet missing or partial genetic diagnosis, may hold a clue to more complex genetic mechanisms of a disease that could be missed by available clinical tests. Here, we report a patient with a clinical diagnosis of Tuberous sclerosis, combined with unusual secondary features, but negative clinical tests including TSC1 and TSC2 Short-read whole-genome sequencing combined with advanced bioinformatics analyses were successful in uncovering a de novo pericentric 87-Mb inversion with breakpoints in TSC2 and ANKRD11, which explains the TSC clinical diagnosis, and confirms a second underlying monogenic disorder, KBG syndrome. Our findings illustrate how complex variants, such as large inversions, may be missed by clinical tests and further highlight the importance of well-defined clinical diagnoses in uncovering complex molecular mechanisms of a disease, such as complex variants and "double trouble" effects.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article