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Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(4): 413-416, 2022 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-35446978

RESUMO

OBJECTIVE: To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD). METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the MVK gene, including a c.248C>T (p.Phe83Cys) variant derived from his father and a c.971C>T (p.Ala324Val) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3). CONCLUSION: The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene.


Assuntos
Deficiência de Mevalonato Quinase , Criança , Genômica , Humanos , Imunoglobulina D/genética , Deficiência de Mevalonato Quinase/genética , Mutação , Sequenciamento do Exoma
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