DOI 10.3760/cma.j.issn.1003-9406.2018.02.028

Медицинская библиотека · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018

[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].

Zeng Hui, Xie Li, Tang Mi, Yang Yifeng, Tan Zhiping

Клинический случайСтатьяПеревод в очереди

Аннотация

OBJECTIVE

To explore the genetic basis for a patient with oculodentodigital dysplasia.

METHODS

Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.

RESULTS

A de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.

CONCLUSION

The c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.

Для цитирования: Zeng Hui, Xie Li, Tang Mi, Yang Yifeng, Tan Zhiping. [A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2018. DOI: 10.3760/cma.j.issn.1003-9406.2018.02.028.

Предметные рубрики MeSH

Adult Connexin 43 Craniofacial Abnormalities Exome Eye Abnormalities Foot Deformities, Congenital Humans Male Mutation Sequence Analysis, DNA Syndactyly Tooth Abnormalities

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