Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 423-426, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-828310
ABSTRACT
OBJECTIVE@#To analyze the clinical and genetic characteristics of an infant girl featuring comprehensive developmental backwardness.@*METHODS@#The patient was subjected to clinical examination, gas chromatography mass spectrometry and next-generation sequencing (NGS).@*RESULTS@#The child was insensitive to sound, could not turn over, raise head, laugh or recognize his mother. Laboratory tests were all normal, but metabolic analysis suggested 3-methylglutaconic aciduria due to elevated 3-methylglutaconic acid and 3-methylglutaric acid. NGS has detected two compound heterozygous CLPB variants in the child, namely c.1085G>A and c.1700A>C, which were respectively inherited from her father and mother. Bioinformatic analysis predicted both variants to be pathogenic. The patient was diagnosed with 3-methylglutaconic aciduria type VII (MGCA7).@*CONCLUSION@#The MGCA7 in the child was probably caused by CLPB gene variants. NGS has provided a powerful diagnostic tool for this rare disorder.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pruebas Genéticas
/
Endopeptidasa Clp
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Genética
/
Errores Innatos del Metabolismo
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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