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Genetic analysis of a child with co-commitment progressive multifocal leukoencephalopathy and X-linked hyper IgM syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 78-82, 2021.
Artigo em Chinês | WPRIM | ID: wpr-879528
ABSTRACT
OBJECTIVE@#To detect variant of the CD40L gene and infection of Jamestown Canyon virus (JCV) in a 7-year-and-9-month-old boy with co-commitment progressive multifocal leukoencephalopathy (PML) and X-linked hyper IgM syndrome (XHIGM).@*METHODS@#Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. The 5 exons and exon/intronic boundaries of the CD40L gene were subjected to PCR amplification and sequencing. Suspected variants were analyzed by using bioinformatic software. The JCV gene was amplified from genomic DNA by nested PCR and sequenced.@*RESULTS@#The child was found to harbor a hemizygous c.506 A>C (p.Y169S) missense variant in exon 5 of the CD40L gene. The variant may affect the TNFH domain of the CD40L protein and result in structural instability and loss of hydrophobic interaction between CD40L and CD40. As predicted by PolyPhen2 and SIFT software, the variant was probably damaging (score = 1.00) and deleterious (score= -8.868). His mother was found to be a heterozygous carrier, while the same variant was not found in his father. Gel electrophoresis of the nested PCR product revealed presence of target JCV band, which was confirmed to be 99% identical with the JCV gene by sequencing.@*CONCLUSION@#The patient was diagnosed with co-commitment XHIGM and PML based on the testing of the CD40L gene and JCV infection.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Reação em Cadeia da Polimerase / Éxons / Leucoencefalopatia Multifocal Progressiva / Mutação de Sentido Incorreto / Ligante de CD40 / Síndrome de Imunodeficiência com Hiper-IgM Tipo 1 Tipo de estudo: Estudo prognóstico Limite: Adulto / Criança / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Reação em Cadeia da Polimerase / Éxons / Leucoencefalopatia Multifocal Progressiva / Mutação de Sentido Incorreto / Ligante de CD40 / Síndrome de Imunodeficiência com Hiper-IgM Tipo 1 Tipo de estudo: Estudo prognóstico Limite: Adulto / Criança / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo