Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <i>MCCC1</i> and <i>GNB5</i> Causing Overlapping Phenotypes.

Shao, Zhuo; Masuho, Ikuo; Tumber, Anupreet; Maynes, Jason T; Tavares, Erika; Ali, Asim; Hewson, Stacy; Schulze, Andreas; Kannu, Peter; Martemyanov, Kirill A; Vincent, Ajoy

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Shao, Zhuo; Masuho, Ikuo; Tumber, Anupreet; Maynes, Jason T; Tavares, Erika; Ali, Asim; Hewson, Stacy; Schulze, Andreas; Kannu, Peter; Martemyanov, Kirill A; Vincent, Ajoy.

Afiliación

Shao Z; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Masuho I; Department of Neuroscience, The Scripps Research Institute, 130 Scripps Way, Jupiter, FL 33458, USA.
Tumber A; Pediatrics and Rare Diseases Group, Sanford Research, 2301 East 60th Street North, Sioux Falls, SD 57104, USA.
Maynes JT; Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Tavares E; Division of Molecular Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Ali A; Department of Anesthesiology, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.
Hewson S; Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Schulze A; Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Kannu P; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.
Martemyanov KA; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Vincent A; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Genes (Basel) ; 12(9)2021 08 29.

Article en En | MEDLINE | ID: mdl-34573334

Asunto(s)

Ligasas de Carbono-Carbono/genética; Subunidades beta de la Proteína de Unión al GTP/química; Subunidades beta de la Proteína de Unión al GTP/genética; Enfermedades Genéticas Congénitas/diagnóstico; Enfermedades Genéticas Congénitas/etiología; Transferencia de Energía por Resonancia de Bioluminiscencia; Ligasas de Carbono-Carbono/deficiencia; Niño; Oftalmopatías/etiología; Oftalmopatías/genética; Femenino; Subunidades beta de la Proteína de Unión al GTP/metabolismo; Enfermedades Genéticas Congénitas/genética; Variación Genética; Células HEK293; Humanos; Recién Nacido; Discapacidad Intelectual/genética; Masculino; Tamizaje Neonatal; Fenotipo; Reproducibilidad de los Resultados; Trastornos Innatos del Ciclo de la Urea/etiología; Secuenciación del Exoma

Palabras clave

GNB5; MCCC1; developmental disabilities; electroretinography; guanine nucleotide binding protein (G-protein), beta5; human; metabolism, inborn errors; receptors, G-protein-coupled; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ligasas de Carbono-Carbono / Subunidades beta de la Proteína de Unión al GTP / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Child / Female / Humans / Male / Newborn Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Canadá

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