Ann Pediatr Endocrinol Metab.  2023 Dec;28(Suppl 1):S3-S5. 10.6065/apem.2244284.142.

Maturity-onset diabetes of the young due to NR0B2 gene mutation

• Lee HI
• Kwon SS
• Lee M
• Kim SJ
• Song K
• Kwon A
• Chae HW
• Kim HS
• Suh J

• KMID: 2549328
• DOI: http://doi.org/10.6065/apem.2244284.142

Figure

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  Fig. 1. Pedigree of the patient and his family. The squares and circles indicate males and females, respectively. The arrow indicates the proband. The filled shapes represent family members with diabetes. The question marks indicate family members who did not undergo NR0B2 sequencing. N/N, normal genotype; M/N, heterozygous NR0B2 mutation.

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  Fig. 2. Sanger sequencing confirmed a heterozygous mutation of NR0B2. The c. 293_301delinsAC (p. Leu98Hisfs * 6) mutation in NR0B2 was found in the patient, his mother, and his sister using clinical exome sequencing. The results were confirmed using Sanger sequencing analysis.

Reference

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