Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.

Aref-Eshghi, Erfan; Bourque, Danielle K; Kerkhof, Jennifer; Carere, Deanna Alexis; Ainsworth, Peter; Sadikovic, Bekim; Armour, Christine M; Lin, Hanxin

Aref-Eshghi, Erfan; Bourque, Danielle K; Kerkhof, Jennifer; Carere, Deanna Alexis; Ainsworth, Peter; Sadikovic, Bekim; Armour, Christine M; Lin, Hanxin.

Afiliación

Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.
Bourque DK; Molecular Genetics Laboratory, Division of Molecular Diagnostics, Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada.
Kerkhof J; Regional Genetics Unit, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Carere DA; Molecular Genetics Laboratory, Division of Molecular Diagnostics, Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada.
Ainsworth P; Molecular Genetics Laboratory, Division of Molecular Diagnostics, Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada.
Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.
Armour CM; Molecular Genetics Laboratory, Division of Molecular Diagnostics, Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada.
Lin H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

Hum Mutat ; 40(10): 1684-1689, 2019 10.

Article en En | MEDLINE | ID: mdl-31268616

Asunto(s)

Anomalías Múltiples/diagnóstico; Anomalías Múltiples/genética; Metilación de ADN; Cara/anomalías; Predisposición Genética a la Enfermedad; Estudio de Asociación del Genoma Completo; Enfermedades Hematológicas/diagnóstico; Enfermedades Hematológicas/genética; Fenotipo; ARN/genética; Enfermedades Vestibulares/diagnóstico; Enfermedades Vestibulares/genética; Alelos; Niño; Epigénesis Genética; Exones; Femenino; Humanos; Análisis de Secuencia de ADN

Palabras clave

DNA methylation; KMT2D; Kabuki syndrome; RNA analysis; discordant variant classification; episignature; nontruncating variant; splice variant; variant of unknown significance

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / ARN / Enfermedades Vestibulares / Metilación de ADN / Predisposición Genética a la Enfermedad / Cara / Estudio de Asociación del Genoma Completo / Enfermedades Hematológicas Límite: Child / Female / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Canadá

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