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.
Article
em Zh
| WPRIM
| ID: wpr-922012
Biblioteca responsável:
WPRO
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 chr5:86 564 268-88 119 605. 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:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Testes Genéticos
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Deleção Cromossômica
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Transtornos Cromossômicos
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Proteína p120 Ativadora de GTPase
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Variações do Número de Cópias de DNA
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Sequenciamento do Exoma
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article