DOI 10.3760/cma.j.issn.1003-9406.2018.06.014

Медицинская библиотека · 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].

Lyu Yuqiang, Xue Ning, Zhang Kaihui, Xu Junjie, Liu Yi, Gai Zhongtao

Клинический случайСтатьяПеревод пока не подготовлен

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.

Для цитирования: Lyu Yuqiang, Xue Ning, Zhang Kaihui, Xu Junjie, Liu Yi, Gai Zhongtao. [Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2018. DOI: 10.3760/cma.j.issn.1003-9406.2018.06.014.

Предметные рубрики MeSH

Child Congenital Hypothyroidism Dual Oxidases High-Throughput Nucleotide Sequencing Humans Male Mutation, Missense

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