Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1127-1131, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-922012
ABSTRACT
OBJECTIVE@#To explore the clinical features and genetic characteristics of a child with 5q14.3 microdeletion syndrome.@*METHODS@#Whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Candidate CNVs were verified by real-time fluorescence quantitative PCR.@*RESULTS@#The patient presented with psychomotor retardation, epilepsy, peculiar face and hypotonia. The results of WES suggested that he has carried a heterozygous deletion for chr586 564 268-88 119 605. CNV-seq indicated that the patient carried a heterozygous deletion of 4.76 Mb heterozygous deletion on chromosome 5q14.3. The MEF2C gene and RASA1 gene in the deletion area were verified by real-time fluorescence quantitative PCR. The results showed that the MEF2C geneand RASA1 gene were heterozygous deletion, which was consistent with the sequencing results.@*CONCLUSION@#The child was diagnosed with 5q14.3 microdeletion syndrome. Haploinsufficiency of the MEF2C gene may underlie the manifestations of 5q14.3 microdeletion syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Pruebas Genéticas
/
Deleción Cromosómica
/
Trastornos de los Cromosomas
/
Proteína Activadora de GTPasa p120
/
Variaciones en el Número de Copia de ADN
/
Secuenciación del Exoma
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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