A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.

Chin, Hui-Lin; Goh, Denise Li-Meng; Wang, Furene Sijia; Tay, Stacey Kiat Hong; Heng, Chew Kiat; Donnini, Claudia; Baruffini, Enrico; Pines, Ophry

Chin, Hui-Lin; Goh, Denise Li-Meng; Wang, Furene Sijia; Tay, Stacey Kiat Hong; Heng, Chew Kiat; Donnini, Claudia; Baruffini, Enrico; Pines, Ophry.

Chin HL; Khoo Teck Puat-National University Children's Medical Institute, National University Health Systems (NUHS), Singapore, Singapore. hui-lin_chin@nuhs.edu.sg.
Goh DL; Department of Pediatrics, Yong Loo Lin School of Medicine, National University Hospital, National University of Singapore, 5 Lower Kent Ridge Road, Singapore, 119074, Singapore. hui-lin_chin@nuhs.edu.sg.
Wang FS; Khoo Teck Puat-National University Children's Medical Institute, National University Health Systems (NUHS), Singapore, Singapore.
Tay SKH; Department of Pediatrics, Yong Loo Lin School of Medicine, National University Hospital, National University of Singapore, 5 Lower Kent Ridge Road, Singapore, 119074, Singapore.
Heng CK; Khoo Teck Puat-National University Children's Medical Institute, National University Health Systems (NUHS), Singapore, Singapore.
Donnini C; Department of Pediatrics, Yong Loo Lin School of Medicine, National University Hospital, National University of Singapore, 5 Lower Kent Ridge Road, Singapore, 119074, Singapore.
Baruffini E; Khoo Teck Puat-National University Children's Medical Institute, National University Health Systems (NUHS), Singapore, Singapore.
Pines O; Department of Pediatrics, Yong Loo Lin School of Medicine, National University Hospital, National University of Singapore, 5 Lower Kent Ridge Road, Singapore, 119074, Singapore.

J Mol Med (Berl) ; 97(11): 1557-1566, 2019 11.

Article en En | MEDLINE | ID: mdl-31529142

Asunto(s)

Insuficiencia de Crecimiento/genética; Insuficiencia de Crecimiento/metabolismo; Antígenos HLA/genética; Hipertensión Pulmonar/genética; Hipertensión Pulmonar/metabolismo; Enfermedades Mitocondriales/genética; Enfermedades Mitocondriales/metabolismo; Valina-ARNt Ligasa/genética; Alelos; Secuencia de Aminoácidos; Heterocigoto; Humanos; Lactante; Masculino; Mutación/genética; Saccharomyces cerevisiae/genética; Saccharomyces cerevisiae/metabolismo; Análisis de Secuencia de ADN

Palabras clave

Aminoacyl-tRNA synthetase; Failure to thrive; Mitochondrial disorder; OXPHOS defect; Pulmonary hypertension; VARS2; VAS1; Yeast model system

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Valina-ARNt Ligasa / Enfermedades Mitocondriales / Insuficiencia de Crecimiento / Antígenos HLA / Hipertensión Pulmonar Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Año: 2019 Tipo del documento: Article

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