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A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 116-119, 2019.
Artigo em Chinês | WPRIM | ID: wpr-775800
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic features of an infant with citrin deficiency (CD).@*METHODS@#Clinical data of the patient was collected and analyzed. Genomic DNA was extracted from peripheral blood samples collected from the patient and her parents. Targeted exome sequencing was performed to explore the genetic cause, and Sanger sequencing was used to confirm the detected variants. SLC25A13 mRNA was extracted from peripheral blood lymphocytes of the infant. The effect of novel mutation of SLC25A13 was analyzed by reverse transcription-PCR, cDNA cloning and Sanger sequencing.@*RESULTS@#The SLC25A13 genotype of the patient was determined as c.845_c.848+1delG/c.1841+3_1841+4delAA, with the latter having not been reported. The mutation has affected the splicing of the SLC25A13 mRNA, giving rise to an aberrant transcript [r.1841_1842ins1841+1_1841+67; 1841+3_c.1841+4del].@*CONCLUSION@#A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Sequência de Bases / Citrulinemia / Proteínas de Transporte da Membrana Mitocondrial / Genética / Mutação Tipo de estudo: Estudo prognóstico Limite: Feminino / Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Sequência de Bases / Citrulinemia / Proteínas de Transporte da Membrana Mitocondrial / Genética / Mutação Tipo de estudo: Estudo prognóstico Limite: Feminino / Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo