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Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Abbott, Megan; Angione, Katie; Forbes, Emily; Stoecker, Mikayla; Saenz, Margarita; Neul, Jeffrey L; Marsh, Eric D; Skinner, Steven A; Percy, Alan K; Benke, Tim A.
Afiliación
  • Abbott M; Department of Child Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.
  • Angione K; School of Medicine, University of Colorado Denver | Anschutz Medical Campus, Aurora, Colorado, USA.
  • Forbes E; Department of Child Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.
  • Stoecker M; School of Medicine, University of Colorado Denver | Anschutz Medical Campus, Aurora, Colorado, USA.
  • Saenz M; School of Medicine, University of Colorado Denver | Anschutz Medical Campus, Aurora, Colorado, USA.
  • Neul JL; Colorado Genetics Laboratory, Aurora, Colorado, USA.
  • Marsh ED; Department of Child Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.
  • Skinner SA; School of Medicine, University of Colorado Denver | Anschutz Medical Campus, Aurora, Colorado, USA.
  • Percy AK; Departments of Pediatrics and Pharmacology, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Benke TA; Division of Neurology, Children's Hospital of Philadelphia, Departments of Neurology and Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 194(10): e63725, 2024 Oct.
Article en En | MEDLINE | ID: mdl-38775384
ABSTRACT
Typical (or classic) Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a period of regression, partial or complete loss of purposeful hand movements, and acquired speech, impaired gait, and stereotyped hand movements. In over 95% of typical RTT, a pathogenic variant is found in the methyl-CPG binding protein 2 gene (MECP2). Here, we describe a young woman with clinically diagnosed typical RTT syndrome who lacked a genetic diagnosis despite 20 years of investigation and multiple rounds of sequencing the MECP2 gene. Recently, additional genetic testing using next-generation sequencing was completed, which revealed a partial insertion of the BCL11A gene within exon 4 of MECP2, resulting in a small deletion in MECP2, causing likely disruption of MeCP2 function due to a frameshift. This case demonstrates the ever-changing limitations of genetic testing, as well as the importance of continual pursuit of a diagnosis as technologies improve and are more widely utilized.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Pruebas Genéticas / Proteína 2 de Unión a Metil-CpG / Secuenciación de Nucleótidos de Alto Rendimiento Límite: Adult / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Pruebas Genéticas / Proteína 2 de Unión a Metil-CpG / Secuenciación de Nucleótidos de Alto Rendimiento Límite: Adult / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos