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Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 678-680, 2021.
Artículo en Chino | WPRIM | ID: wpr-888374
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with recurrent infection, multiple malformation and dysmorphism.@*METHODS@#The child and his parents were subjected to trio whole exome sequencing.@*RESULTS@#The child had a complaint of fever and cough, with long and thin eye fissures and long eyelashes. Genetic testing revealed that the child has carried a non-triplet deletion of the KDM6A gene, which was unreported previously. The variant resulted in frameshift and premature termination of the translation. His parents were both of the wild type for the locus. After antibiotic and immunoglobulin treatment, the severe secondary pneumonia caused by immunodeficiency has improved.@*CONCLUSION@#With combined laboratory test, imaging examination and genetic testing, the child was ultimately diagnosed with Kabuki syndrome type 2. The characteristics of immunodeficiency of Kabuki syndrome may render conventional antibiotic treatment ineffective, which deserves clinical attention.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Fenotipo / Neumonía / Anomalías Múltiples / Proteínas Nucleares / Enfermedades Vestibulares / Pruebas Genéticas / Proteínas de Unión al ADN / Cara / Histona Demetilasas / Enfermedades Hematológicas Tipo de estudio: Estudio pronóstico Límite: Niño / Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2021 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Fenotipo / Neumonía / Anomalías Múltiples / Proteínas Nucleares / Enfermedades Vestibulares / Pruebas Genéticas / Proteínas de Unión al ADN / Cara / Histona Demetilasas / Enfermedades Hematológicas Tipo de estudio: Estudio pronóstico Límite: Niño / Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2021 Tipo del documento: Artículo