Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018
[Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism].
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Lyu Yuqiang, Xue Ning, Zhang Kaihui, Xu Junjie, Liu Yi, Gai Zhongtao
Аннотация
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.
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.