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Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 836-839, 2018.
Article in Chinese | WPRIM | ID: wpr-775825
ABSTRACT
OBJECTIVE@#To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism.@*METHODS@#DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software.@*RESULTS@#Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father.@*CONCLUSION@#The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Mutation, Missense / Congenital Hypothyroidism / Diagnosis / High-Throughput Nucleotide Sequencing / Dual Oxidases / Genetics Type of study: Diagnostic study Limits: Child / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Mutation, Missense / Congenital Hypothyroidism / Diagnosis / High-Throughput Nucleotide Sequencing / Dual Oxidases / Genetics Type of study: Diagnostic study Limits: Child / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article