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Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene / 中华医学遗传学杂志
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-879498
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency.@*METHODS@#Potential variants of the DLD gene were detected by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#Compound heterozygous variants, c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr), were detected in the DLD gene. The c.1058T>C (p.Ile353Thr) variant was derived from his mother and known to be pathogenic. The c.704_705delTT (p.Leu235Argfs*8) variant was derived from his father and was unreported previously.@*CONCLUSION@#The compound heterozygous variants of c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr) of the DLD gene probably underlay the disease in this patient. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.
Subject(s)
Full text: Available Database: WPRIM (Western Pacific) Main subject: Genetic Variation / Acidosis, Lactic / Genetic Testing / Exome Sequencing / Dihydrolipoamide Dehydrogenase / Maple Syrup Urine Disease Type of study: Prognostic study Limits: Female / Humans / Male / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Document type: Article
Full text: Available Database: WPRIM (Western Pacific) Main subject: Genetic Variation / Acidosis, Lactic / Genetic Testing / Exome Sequencing / Dihydrolipoamide Dehydrogenase / Maple Syrup Urine Disease Type of study: Prognostic study Limits: Female / Humans / Male / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Document type: Article
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