Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China

Abstract

Aims. To study the clinical features, genetic etiology, and the correlation between phenotype and genotype of neonatal diabetes mellitus (NDM) in Chinese patients. Methods. We reviewed the medical records of 25 NDM patients along with their follow-up details. Molecular genetic analysis was performed. We compared the HbA1c levels between PNDM group and infantile-onset T1DM patients. Results. Of 25 NDM patients, 18 (72.0%) were PNDM and 7 (28.0%) were TNDM. Among 18 PNDM cases, 6 (33.3%) had known KATP channel mutations (KATP-PNDM). There were six non-KATP mutations, five novel mutations, including INS, EIF2AK3 (n = 2), GLIS3, and SLC19A2, one known EIF2AK3 mutation. There are two ABCC8 mutations in TNDM cases and one paternal UPD6q24. Five of the six KATP-PNDM patients were tried for glyburide transition, and 3 were successfully switched to glyburide. Mean HbA1c of PNDM was not significantly different from infantile onset T1DM (7.2% versus 7.4%, P = 0.41). Conclusion. PNDM accounted for 72% of NDM patients. About one-third of PNDM and TNDM patients had KATP mutations. The genetic etiology could be determined in 50% of PNDM and 43% of TNDM cases. PNDM patients achieved good glycemic control with insulin or glyburide therapy. The etiology of NDM suggests polygenic inheritance.

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies

“…At onset, some patients may not present the complete triad. 7,[44][45][46][47][48] More than 100 cases have been reported, all of them presenting with symptoms in childhood or adolescence. 2,3 Diabetes and anemia can appear as early as the neonatal period and require the administration of insulin and multiple blood transfusions.…”

Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan

“…[13][14][15][16][17][18] Although the data on genotype-phenotype correlation and the effects of sulfonylurea are accumulating, there have been few reports on the Asian population, most of which being single case reports. [19][20][21][22][23][24][25][26][27][28] In this study, we accumulated the largest number of K ATP -channel NDM cases in Japanese patients and analyzed their genotype-phenotype correlations and their response to sulfonylurea.…”

Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population

“… reported that the genetic etiology could be determined in 84% (19/23) of Chinese patients with neonatal diabetes mellitus, which was higher than the outcomes from Cao et al. (60%; 15/25). According to the clinical consequences, neonatal diabetes mellitus can be divided into two forms, transient neonatal diabetes mellitus and permanent neonatal diabetes mellitus.…”