[Analysis of INS gene variant in a juvenile with maturity-onset diabetes of the young type 10].
作者信息
Kang Huimin, Fang Xin
机构信息
Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):159-161. doi: 10.3760/cma.j.issn.1003-9406.2020.02.015.
OBJECTIVE
To analyze INS gene variant in a patient with maturity-onset diabetes of the young type 10.
METHODS
High-throughput sequencing was used to screen for the variants. Suspected variant was verified by Sanger sequencing.
RESULTS
Genetic testing indicated that the patient and his mother have both carried a heterozygous c.130G>A (p.Gly44Arg) variant in exon 1 of the INS gene. Prediction of protein structure suggested the variant to be pathogenic.
CONCLUSION
The c.130G>A (p.Gly44Arg) variant of the INS gene probably underlies the disease in this patient.
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