Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 413-416, 2022.
Article
em Zh
| WPRIM
| ID: wpr-928431
Biblioteca responsável:
WPRO
ABSTRACT
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.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Imunoglobulina D
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Genômica
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Deficiência de Mevalonato Quinase
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Sequenciamento do Exoma
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Mutação
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Child
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article